Child Health Theory: Endocrine Disorders

Menarche

menstrual cycle

Congenital Adrenal Hyperplasia (CAH) Physiology

Adrenals normally synthesize steroids from cholesterol to secrete three hormones: Mineralocorticoids to produce aldosterone Gluccocorticoids to produce cortisol Androgens to produce testosterone Feed back system with Pituitary ADTH to stimulate the adrenals to produce these hormones as the body needs them Glucocorticoids regulate protein, fat and carbohydrate metabolism. Mineralcorticoids regulate Na and K levels to maintain fluid and electrolyte balance regulate Na levels H20 retention and K loss.

Prognosis: PKU

"Average" mental cognition Tend to have lower IQ's than those without PKU, but are still on the spectrum of average

GH Deficiency Clinical Manifestations

Normal growth for first year of life Slowed growth curve < 3rd percentile Short stature, but weight is normal or obese This can differentiate from FTT Difficult to predict height, can grow into third or fourth decade Normal intelligence Academic problems Emotional problems related to immaturity of physical appearance Bone age related to height age. Don't go through "puberty" during same period as other children - this is delayed. These kids will continue to grow long after most adolescents / young adults have stopped. However, they remain short-statured - maybe only achieving height of 5 feet. While they have normal intelligence, they are often treated in accordance with their height age and not their chronological age, so they often repeat grades or enrolled in classes for kids with learning disabilities

Precocious Puberty

Normally, puberty starts when the hypothalamus tells the pituitary to start releasing gonadotropic hormones (sex hormones) Central __________________________ (CPP) Peripheral __________________________ (PPP)

Precocious Puberty

The traditional manifestation of __________________________ development has been before the age of 9 in boys and 8 in girls Recently it has been found that puberty in girls is occurring earlier Now evaluations for precocious puberty in girls should be performed for Caucasian younger than 7 and for African-American younger than 6. No change has been recommended for boys yet __________________________ guidelines vary based on ethnicity and trends. Girls are going through puberty earlier than in decades past. Guidelines to change, important for pediatric nurse to stay familiar with pubertal norms.

Therapeutic Management PKU

To allow for optimum growth the diet should be initiated no later that 3 weeks of age. Specially prepared milk substitutes: Phenyl Free 1 (Infants) Phenyl Free 2 (older children and adults) Phenex-1( Infants) Phenex-2 (Children and Adults) Phenyl-Free 2HP (Children and Adults) No other formula or foods are used for the infant. Only the Phenyl products or breast milk. These formulas are the basis for the diet for all ages With levels of 11-15 mg.dl significant brain damage can occur. 2-12 mg/dl is recommended for an adult. Levels less than 2 the body is unable to utilize protein stores and growth retardation can occur. Carefully watch child as levels and needs change with appetite and growth and development and tyrosine and phenyl levels.

Nursing Care Management Hyperglycemia

Too little insulin or omission of a dose Too much food Stress and stressful events Illness/surgery Emotional upsets Increase in growth hormone at puberty At Puberty child's cells become more insulin resistant and require more insulin to control blood sugar. Because of increase in growth hormone.

Therapeutic Management PKU

Use no artificial sweeteners such as aspartame as it is converted to phenylanine in the gastrointestinal tract (NutraSweet, Equal, some medications) Portion size important (Assistance by a registered dietitian is essential) Monitor blood levels Recommended to stay on diet for life. Concerns for pregnancy in a PKU woman At one time it was advocated to stay on the diet only to three years of age because after that it was felt that the major development of the central nervous system had been accomplished. Now it is recommended that people to maintain the diet for life. Noticed by researchers that once children went off the diet they had more learning and behavioral problems as they got older. People with PKU say that when they stay on Phe-free diet, they feel better and have fewer problems with paying attention , concentrating, and remembering. People report they think and feel better.

Gender Assignment

Usually these children are raised as females due to the fact the internal structures are intact Parents need to be thoroughly advised of situation if there is a question of child's correct gender at birth Help them to understand the diagnosis so they may explain it to their family members. Need continued support and guidance and allow expressions of feelings

Hypopituitaryism

Variety of causes Idiopathic, trauma, autoimmune, tumors Panhypopituitaryism Lack of some of the hormones: Gonadotropin deficiency (Absence or regression of 2o sex characteristics) Growth hormone (GH) deficiency TSH deficiency (Causes hypothyroidism) Corticotropin deficiency Causes adrenal hypofunction Tumors in the pituitary or hypothalmic region is most common cause. Panhypopituitaryism - lack of ALL pituitary hormones therefore all need to be replaced. Focus on GH deficiency!

PKU food choices

Very restrictive diet! The Phe free formula is the basis of the PKU diet. There are low-protein breads and pastas available also. All foods high is protein such as milk, dairy products, meat, fish and eggs, beans, and nuts are not allowed - they cause high blood phe levels. This target is an easy way to visualize the foods allowed on the diet for PKU. The phenylalanine-free formula, is the center of the target diet. It contains protein, vitamins, minerals and calories with no phenylalanine.

Clinical Manifestations Galactosemia

Vomiting Diarrhea Weight loss Death during first month of life if untreated Infants appear normal at birth, but begin to show symptoms on ingestion of breast milk

Diagnostic Evaluation PKU

Want early diagnosis to prevent cognitive impairment Newborn screening for PKU mandatory in all 50 states Not all babies get the newborn screen early discharge following birth resulting in newborns not getting screened Home births Adoptions from other countries Need to ensure the newborn screening gets done!

Pubarche

developmental of pubic hair

Thelarche

early breast development

Clinical Manifestations CAH Female

is born with ambiguous genitalia Clitoris is hypertrophied and resembles a penis with hypospadius Labia is fused to a variable degree and appears as a scrotum Urogenital sinus opens behind clitoris Internal organs are those of a normal female

Therapeutic Management DM

Collaborative management Recommended by the American Diabetes Association Multidisciplinary team approach Pediatric endocrinologist Diabetic nurse educator Dietitian Mental health professional Exercise physiologist Client and family are an integral part of the team

Growth Hormone Deficiency

Controversy Some believe that GH should not be given to otherwise healthy children. Others feel that short stature (below 3rd percentile) should be treated. What do you think? Under 5 ft 4 for boys and 4 feet 11 for girls. This treatment can help increase the person's final height by 2-3 inches. In a recent study 56% of physicians felt that height impaired the emotional well being in children below the 3rd percentile. Some on the other hand, do not consider short children to have a disability and thus consider GH use to be a form of cosmetic endocrinology. Slipped capital epiphysis, worsen existing scoliosis etc. My story: I am 4'10''. Pediatrician did not advise this and instead focused on the SE's when my parents had an initial consultation. Pediatrician himself was a short man - did this influence his medical advice???

Therapeutic Management GH Deficiency

Correct underlying disease process Remove tumor if that is the cause Replacement of GH Replace other hormone deficiencies as needed Thyroid extract, cortisone, testosterone, estrogen, progesterone

Congenital Adrenal Hyperplasia (CAH)

Deficiency of one of the enzymes to produce cortisol and (maybe) aldosterone Inherited defect known to occur in 6 different enzymes. 90% of cases of CAH involve the enzyme 21-hydroxylase Autosomal Recessive disorder Overall occurrence 1:12,000-1:15,000 births Autosomal Recessive disorder one gene from mom and one gene from dad to manifest the disease. In the fetus the defect in the development of 2 adrenal hormones: Cortisone (glucocorticoid) and Aldosterone( mineralcorticoid) because the enzyme 21 -hydroxylase is not present.

Clinical Manifestations Cong. Hypothyroidism After 6 weeks of age

Depressed nasal bridge Short forehead Puffy eyelids Large tongue Course dry lusterless hair Large fontanels and wide cranial sutures Umbilical Hernia Abdominal distension Hypothermia

DM Growth and Development Issues Infancy (0-12months)

Diagnosis at this age is difficult Recognition and treatment of hypoglycemia is a major challenge Parents need much emotional support from family and friends Child needs support from parents Trust issues Symptoms are hard to identify and evaluate. Infants critically ill at the time of diagnosis and can die if not treated in time. "needle sticks" are traumatic to small fingers and toes. Use feet or earlobe to draw blood. Unique responses to low blood sugar. Blood glucose needs to be done more often at least 4X"s a day or more. Avoid tight control with infants. Check urine use cotton balls to catch urine for a drop to test. Trust issues: Inflict pain, encourage and reward. Offer comfort with hugs and kisses. Parent in roles of inflicting pain rather than a source of comfort.

Nursing Care Management CAH

Genetic Counseling Parents need counseling before they conceive another child. Affected child will also require counseling There has been some attempt to identify the condition in utero through DNA tests and HLA typing and to administer dexamethasone to the mother. Crosses the placenta and suppresses the fetal adrenal gland Newborn screening is available for _________. Has been recently added to the expanded screening programs both in Kansas and Missouri.

Congenital Hypothyroidism Therapeutic Management

Goal: normal physical and mental development Life-long thyroid hormone replacement Levothyroxine sodium (synthroid or levothroid) Routine measurement of T3, T4 and TSH levels Bone age surveys to ensure optimum growth Prognosis: good if treatment begins by 2 weeks of age Remember that pediatric medication dosages are based upon BODY WEIGHT, so expect that the dose will change frequently, especially during growth spurts. Important to provide family with anticipatory guidance that blood levels need to be monitored to ensure medication therapy is adequate. Important to teach parents to adhere to medication therapy and be compliant. Nonadherence adversely affects intelligence.

Therapeutic Management for Type 1 or Type 2

Goals for Therapy for children and adolescents Achieve glycemic control Promote normal growth and development Prevent or delay complications Intensive management has become the standard of care for most children and adolescents with diabetes type 1

Clinical Manifestations PKU

Growth failure / failure to thrive (FTT) Vomiting Irritable Hyperactivity Developmental Delay Unpredictable and erratic behaviors (Fright reactions, screaming episodes, head banging, arm biting, disorientation, spasticity or catatonia) Mental retardation Mousy or musty odor to urine (older infant)

Therapeutic Management CAH

Hydrocortisone (cortisol) replacement in the form of hydrocortisone tablets: Causes suppression of ACTH by the pituitary Androgen production is decreased Virilization halted Lifelong replacement is needed with increased doses during periods of stress, surgery, infection, or injury.

Answer: B It is preferable to raise the child according to genetic sex. With hormone replacement and surgical intervention if needed, genetically female children achieve satisfactory results in reversing virilism and achieving normal puberty and ability to conceive. Reconstructive surgery as a female is only preferred for infants who are genetically female. Infants who are genetically male should be given hormonal supplementation. Sex assignment and rearing depend on psychosocial influences, not on genetic sex hormone influences during fetal life. It is not advised to raise the child as a boy because of the presence of a penis and scrotum unless the child is genetic male. If a genetic female, the child will be sterile and may never be able to function satisfactorily in a heterosexual relationship. Tip: point out that lots of exam questions include providing parent teaching or parent reassurance. Also consider which response is more therapeutic, etc.

Congenital adrenal hyperplasia (CAH) is suspected in a newborn because of ambiguous genitalia. The parents are appropriately upset and concerned about their child's gender. In teaching the parents about CAH, the nurse explains that: A.reconstructive surgery as a female is preferred. B.sexual assignment should wait until genetic sex is determined. C.prenatal masculinization will strongly influence the child's development. D.the child should be raised as a boy because of the presence of a penis and scrotum.

Growth and Development Issues Adolescence (12-15)

Identity vs. Identity diffusion Rapid biological changes (Changing insulin needs) Body image concerns Peer pressure Behavioral experimentation Loss of control Coping skills Adolescence is a time of rapid change and increased physical , cognitive, and emotional inactivity. Increase in growth hormone as an insulin antagonist. Metabolic control is more difficult with increase in insulin resistance of receptor sites on the cell. It is a time of increasing peer conflict and experimentation, unit testing and independent functioning from the family. Self-image changes with emergence of sexuality and experience may be different and frightening on some. Diagnosis of diabetes at this time or even with a child previously diagnosis with the disease sets the adolesceht apart from his peers and he may feel defect and different and weaker than his peers. Peer pressure generates strong conflict. As the adolescent tries to monitor his blood sugar , eat meals on time, and avoid concentrated sweets and be accepted by his peers. Need a stable family environment to help him through this stage.

Growth and Development Issues School-age (7-11)

Industry vs. Inferiority Capable of taking an active role in his own care with adult supervision Need parental support (shared responsibilities) Dietary issues Diabetes regimen needs to be flexible to allow participation in school, sport, and peer activities Common time for diagnosis to occur(10-15) late school age and early adolescence. These children are better able than ever to think, learn, and remember, listen and cooperate. The cognitive process is less egocentric and more toward concrete thinking. Evaluate the cognitive ability able to teach him about his disease. 6 year old can puncture his finger for blood glucose, 8-9 year old can give his own insulin. 10-12 hear old rotate sites and measure insulin. 2 adults need to learn procedures as back up for each other. Allow plenty of patience and hands on time to learn the tasks and equipment as well as praise and reinforcement to help him take control of the disease. Allow the child to handle as much of his diabetes management as he cam. Supervise him carefully but don't over whelm him. He will have to eventually assume responsibility for his own care as an adult. Dietary concerns now more flexible. Not so much an issue as some sweets can be allowed. Let teachers and school nurse know of his condition and other adults and peers that know him so they know what to do is something happens and know what is going on. Diabetic camps are a great opportunity for children to get to know other with the same disease and not feel so alone.

Growth and Development Issues Adolescence (16-19)

Integrate diabetes into his new lifestyle Family support to transition to independence Learn coping skills to enhance his ability for self-management Avoid risky behaviors Alcohol and drug use Pregnancy Develop long-term goals. Parent support necessary component of adolescents adjustment to disease. Some children are admitted to the hospital over and over in ketoacidosis largely because of metabolic labiality and psychological dysfunction of the family where by the child is left on his own to control disease. It is his responsibility, but it should rather be shared and the parent still offer support as needed. There has been observed higher levels of depression in this age group with diabetes and lower self esteem and satisfaction with life than peers without diabetes. Ego development and maturation, major parent conflict is often associated with diagnosis of diabetes. Just as he is trying to assert new responsibilities, social relationships he finds the parent's concerns dominating his relationships. Assert his independence by denying that he has the disease and skips clinic appointments etc. Adolescent behavior feels invulnerable "nothing can happen to me" Leads to risk taking behaviors. Junk food is a preference leads to ketoacidosis. and poor control of diabetes. Conflicts with parents and loss of control. Having an insulin reaction in front of his peers is often a major fear.

Educate on Diabetic Management

It is the cornerstone of diabetes management It is a major responsibility of nursing care The more the family understands about the disease the better they will be able to maintain a high degree of control It is through education that diabetics are given their best defense against complications Eating orders such as bulimia and anorexia in teenagers with type 1 diabetes pose a serious health hazard. Alcohol and drug use has become part of the adolescent experimentation and subculture. For a diabetic it can have dire consequences. Hypoglycemia. Smoking also increased the risk of serious diabetes-related complications such as the eye and kidney disease. Diabetes does not interfere with a young woman's ability to have children. However for her best health and the health of her baby she must plan any pregnancy so that she maintains excellent control both prior to conception and throughout the pregnancy. Contraception important. The latest research supports the idea that children have better metabolic control when the parents share the responsibility for the diabetes management with each other and the child. Described as partners in care. Most you people seldom think about their health 20 years down the road. This is where their family, and health care professionals come in to provide their the foresight and support to help them stay on track forward a health future. It is ultimately their decision alone how to manage their life style and chose behaviors for optimal outcomes. Education is the cornerstone of diabetes management and the major responsibility in diabetes nursing care. True for both Diabetes 1 and 2.

Growth and Development Issues Preschool (continued)

This age they are gaining confidence in their ability to master tasks but still do not have the coordination and cognitive development to perform most diabetic tasks They need to be involved in diabetic activities as much as possible Child Care providers and babysitters need to be taught to effectively manage the child's diabetes when parent is unable to Diet restrictions are again a problem. Reinforce good habits. Brief peers and adults who work with child on his food restrictions and schedule. Praise child for eating properly and give extra food before exercise. Carry snacks when away from home. Recommend a Id tag with medical information. Help the child recognize how he feels. When he has an episode so he will remember it another time and ask for help.

Answer: C Adolescence is a time when the individual has a need to be perfect and similar to peers. Having diabetes makes adolescents different from their peers. Adolescents do not wish to be unique; they desire to fit in with the peer group. The adolescent is usually not future oriented. Awareness of peers that diabetes is a severe disease would further alienate the adolescent with diabetes. The peer group would focus on the differences. Think of how the answer (and answer options) might be different for a 4 or 8 year old child.

To help the adolescent deal with diabetes, the nurse needs to consider which of the following characteristics of adolescence? A.Desire to be unique B.Preoccupation with the future C.Need to be perfect and similar to peers D.Awareness of peers that diabetes is a severe disease

Answer: D Hallmarks of diabetes mellitus are glycosuria, polyuria, and polydipsia. Nausea and seizures are not clinical manifestations of diabetes mellitus. Impaired vision is a long-term complication of the disease. Tip: ask students how these signs manifest in a child? How do you ask a child about these signs? How do you ask a parent about these signs?

Which of the following is considered a cardinal sign of diabetes mellitus? A.Nausea B.Seizures C.Impaired vision D.Frequent urination

Therapeutic Management: Desired blood glucose levels

Adolescents and young adults Before meals 90-130 Bedtime 90-150 A1c less that 7.5% Higher rates for children are due to their vulnerability to hypoglycemia Children need to be monitored at least 4 times a day and often more frequently Usually monitor with tight control 4-6+ times a day.

Phenylketonuria (PKU)

Absence of the enzyme that metabolizes phenylalanine Absence of the hepatic enzyme phenylalanine hydroxylase needed to metabolize the essential amino acid phenylalanine to tyrosine Tyrosine is needed to form melanin, epinephrine, and thyroxine (Tyrosine is used in protein supplements for people with PKU. Most doctors don't recommend more (additional) tyrosine supplements.) Decreased melanin production results in blond hair, blue eyes, and fair skin children.

Therapeutic Management Diet Modification and Nutrition

Children need sufficient calories for activity and energy expenditures and G&D Coordination of food intake with insulin action Consistent number of calories to meet exogenous insulin requirements Dietitian works closely with child and family to set up a meal plan

Therapeutic Management Exercise/Physical Activity

Cells utilize blood glucose more effectively Exercise lowers blood sugar Helps insulin to enter the cell more readily Insulin requirement is reduced Always carry a carbohydrate source to treat hypoglycemia or take before exercise to prevent

Nursing Care Management CAH

Anticipatory guidance: life-long medication therapy Cortisol replacement Aldosterone replacement Salt replacement Anticipatory guidance: dehydration and salt-losing crisis Recognize signs of dehydration Parents should have IM hydrocortisone and know how to administer it Seek medical help ASAP

Growth and Development Issues Toddler (12-36 months)

Autonomy vs. shame and doubt Diagnosis also elusive in this age group Fear of painful procedures Finicky eating patterns poor appetite Toilet training issues and early symptoms can be confused Problems with correctly identifying and treating hypoglycemic episodes Temper tantrums and discipline Diagnosis is elusive in a toddler. Polyuria and enuresis in a previously toilet trained child are early warning not lapses. For which they might be mistaken for. Parental guilt when a diagnosis is made is common. Temper tantrums common in toddler and also can be a sign of hypoglycemia. Check blood sugar before punishment for misbehavior. Needle sticks and painful procedures are difficult. Parents take turns being the good or bad guy. Toddlers are strong and may need to be restrained during procedures. Both need to take turns doing injection and sticks. Eliminate one parent from always being the bad guy. A single parent needs a support person to participate in caring for the child if parent unable to. Finicky eating patterns are a problem. Small frequent meals work best. Check the blood sugar before and often. Parent often afraid to let child out of their sight. Sometimes child may learn that if he acts a certain way he will get a sweet treat. Autonomy- Diabetes gets in the way of this developmental task . Give choices as much as possible such as which site to do injection or which finger to prick.

PKU

Autosomal Recessive both male and female equally affected. Both carriers in the heterozygous state (Aa) 25% in each pregnancy afflicted (aa) 50% chance will be a carrier (Aa). Carrier rate in the general population is 1 in 50 for PKU.

Galactosemia

Autosomal recessive disorder Absence of enzyme that converts galactose into glucose

Precocious Puberty Therapeutic Management

Based on specific cause Precocious puberty may stop without any treatment Medication to regulate pituitary secretions Adult height isn't always reached GH treatment Some patients do not attain adult targeted height during therapy, so GH may be used.

Insulin Pump

Becoming popular with all age groups including infants and toddlers Allows for more physiologic insulin delivery than injections Flexible with meal and snack time Decreased amount of injections required Improved A1c levels Allows for a continuous baseline infusion with intermittent boluses as determined by user Boluses determined by blood sugar, activity, and diet Blood sugar must be monitored at least 5-6x's daily Size of a pager and worn on a belt Insulin pump delivers rapid-acting insulin bolus along with baseline dosages. Child no longer forced to eat based on the peak of intermediate or long acting insulin. Enjoy more freedom and flexibility in all aspects of their lives. Seeing more with all ages. Parents regulate for younger children. Medication delivered by a small needle injected in subcutaneous tissue of the abdomen Needle changed every 48 hrs Can't be removed for more that 1 hour a day Expensive Skin infections common, Math skills necessary to calculate infusiong rates, Alarms signal problems

Nursing Care Management Hyperglycemia

Blood Sugars Elevated Gradual onset, Lethargy, weakness, the three P's, Nausea and vomiting, Abdominal pain, dehydration, warm and flushed Most children can keep on top of this with regular blood sugar checks and treat it effectively At puberty may need a major readjustment of insulin dosages. Increase in growth hormone increases insulin resistance need more insulin. Growth hormone is an insulin antagonist. Antagonist - chemical that acts with in body to reduce the physiological activity of another chemical substance. Agonist a chemical substance capale of combininb with a receptor cell and initiating a reaction or activity. If blood sugar is above individual target (180) check ketones. If BS is above 240 xtra insulin will be given to a known diabetic.

Congenital Hypothyroidism

Born with inability to synthesize thyroid hormone Incidence: 1:3000-4000 newborns May be permanent or transient Often associated with other abnormalities Autosomal recessive trait Transient: temporary This disease is also an endocrine disorder. High incidence of this seen in Down syndrome babies and also a higher incidence of other congenital abnormalities has been observed in infants with CH.

Diabetic Ketoacidosis

Can be life-threatening Progressive deterioration with dehydration, electrolyte imbalance, acidosis, coma and death Correct fluid deficiency and electrolyte imbalance Insulin therapy Prioritize: cardiac arrest is immediate emergency. So is acidosis. Pour fluids on them to restore electrolyte balance (this will serve to dilute serum potassium levels) and correct dehydration. Can also assist with acidosis. Realize that you don't drop their blood sugar too quickly - this can cause additional problems and patient may experience pseudo-hypoglycemia. This is also why I don't list "insulin therapy" as #1 because I want to avoid confusion that we are immediately correcting the hyperglycemia. Priority: fluids, then electrolytes, then insulin Fluid: Normal saline. Replace fluid ½ of fluid deficit in first 8-12 hours. Then replace the remaining half of fluid deficit over next 16-24 or more hours. One concern is cerebral edema - recommend that fluid replacement takes 36-48 hours. Don't give potassium until you know the serum level is low. We know the patient in DKA will have a low Potassium, but don't treat it until labs demonstrate this. Concern is giving them potassium when there isn't insulin to push it into the cell - can cause cardiac arrest when there is excessive potassium extracellular. Also, don't give potassium until the child is demonstrating adequate renal function AEB voiding appropriate amount.

DM Nursing Care Management

Carbohydrate Counting: Concentrated sweets are discouraged but not prohibited 15 grams of carbohydrate equals 1 carb. Some diabetics use carbs and some use grams of carbohydrates Calculate insulin/carbohydrate ratio to figure insulin need This diet has been instrumental in simplifying the Diabetic lifestyle. However, there has been a trend to move away from traditional "carb counting" to counting grams of carbs. Carb counting Based on the premise that carbohydrate is the main food that raises blood sugar no matter its source. Dietitian helps establish total grams of carbohydrates to eat at meal's and snacks One serving of starch, fruit, or milk is equal to12-15 grams of carbohydrate Vegetables are not counted Reasonable amounts of fat and protein recommended 1 unit per 15 grams of carbohydrate.

Clinical Manifestations DM Type 1

Cardinal manifestations Polyruria, polydipsia, polyphagia Enuresis and nocturia Weight loss Ketonuria Hyperglycemia Fatigue Irritability Type 1: Type 1 Symptoms of diabetes are more readily recognized in children rather than adults. Diabetes is a great imitator i.e. appendicitis, flu etc. wrong diagnosis.

DM Nursing Care Management

Causes of Hypoglycemia Overdose of Insulin Omitting or eating less food Overexertion without food on board Nutritional and fluid imbalance (N/V) Alcohol intake This is important anticipatory guidance!!! Ingestion of alcohol inhibits the release of glycogen from the liver and can result in hypogycemia. This is because the liver is so busy breaking down alcohol, that it doesn't produce sugar (doesn't break down glycogen to glucose). Inebriated behavior is similar to hypoglycemia behaviors. Treat as inebriated even though they are hypoglycemic and need glucose. Diabetic when consuming alcohol should also eat snacks or sweeten mix to maintain blood sugar.

Diagnostic Evaluation PKU

Diagnostic Tests Guthrie blood test Determines phenylalanine levels in blood (greater than 4 mg/dl) Normal new born levels are 0.5-1 mg/dl. Initial specimen must be taken as close as possible to discharge of infant and no later than 7 days after birth. The most reliable test is taken after the infant has ingested a source of protein. Another specimen should be collected by two weeks of age if the initial sample was taken before baby was 24 hours old. All babies need to be designated a primary provider to follow up with test results. Follow up for high levels of phenylalanine would be further testing and placement on the diet as soon as possible to prevent damage to the CNS. Follow up levels may be taken especially if the initial sample was taken between 12 and 24 hours of age. Normal levels in children and adolescents are 1.6 mg. The Guthrie test detects serum phenylketonuira levels greater than 4 mg/dl. A second test may be needed if the test is done on an infant between 12 and 24 hours old.

Nursing Care Management Galactosemia

Dietary management Easier to maintain dietary restrictions as compared to with PKU because more foods are allowed Teach parents to read food labels Be aware of "hidden" galactose Medicine i.e. penicillin, some OTC Vitamins, dietary supplements Encourage parents to get to know their pharmacist!

Congenital Hypothyroidism Diagnosis

Early diagnosis most important to prevent progressive deterioration of the nervous system and retardation Newborn screening is mandatory in all 50 states Simple blood test to measure T4 blood levels taken within first 24-48 hours before discharge Screening before first 48 hours of life does result in false positives If positive follow up with TSH levels and Thyroid scan In infants who are preterm or sick, thyroid function is usually lower than in healthy full-term newborns, and may be evaluated after 30 weeks corrected age in newborns born before the time and after the resolution of the acute illness in the sick full-term. Story of advisee who went from hypothyroid to hyperthyroid and lost a semester because of how it affected her grades, etc

Nursing Care Management CAH

Early recognition of ambiguous genitalia Teaching to parents about diagnosis Allow parents time to grieve over lost "perfect" child Parents may be disappointed if they wanted a boy child, child appears to be a boy, and then they learn it is actually a girl Refer for psychologic consultation if parents desire to raise child opposite of their biologic gender, gender assignment surgery Explain CHA to parents in simple terms Teach parents how they can explain to others Reassurance that with time and treatment, the gender ambiguity does improve Recommendations until then: Diaper child in a separate room away from visitors What is the first thing that people always ask when someone is pregnant or after a baby has been born? "Is it a boy or a girl?" Parents may have difficulty with this seemingly innocent question. Help them to anticipate how to respond. There are levels of ambiguity, and levels of improvement. Difficult to predict end result, and parents often want to know the end result right away.

Diagnostic Evaluation

Eight-hour fasting blood glucose ≥126 mg/dl Random blood glucose ≥ 200 mg/dl Oral glucose tolerance test (OGTT) ≥ 200 mg/dl Glycosuria Ketonuria Pre-diabetes blood sugars are 100-125

Medications for Salt-Wasters

Need aldosterone replaced also Florinef Acetate oral once a day Also need an injectable form of cortisone ie Solu-cortef on hand to administer if child is vomiting and cannot keep medication down or when experiencing severe stress Increased dietary salt encouraged Medic Alert Bracelet

Therapeutic Management Galactosemia

Eliminate all milk and lactose-containing formula in infancy This includes breastmilk! Recommend soy protein formula or elemental formula Dietary elimination of foods with galactose for life Includes some fruits and vegetables Breastmilk is made of lactose, galactose and fructose. Lactose is the main carbohydrate of breastmilk. Some fruits and vegetables do contain small amounts of galactose. However, the form of galactose (bound galactose) found in fruits and vegetables is not usable by the body, and may not contribute to elevated blood gal-1-p. Recent research has shown that bound galactose may in fact be usable by the body, but further studies are needed to confirm this. Foods with more than 10 mg Galactose/100 gram of food: Tomato, dates, papaya, bell pepper, watermelon Foods with 5-10 mg Galactose/100 gram of food: apple Brussels sprouts eggplant oranges apricot cabbage green grapes pear asparagus cantaloupe grapefruit peas avocado carrot kale potato banana cauliflower kiwi pumpkin bean sprouts celery lettuce radish beets corn green onion sweet potato broccoli cucumber yellow onion zucchini

Precocious Puberty Signs Boys

Enlargement of testicles or penis, pubic, underarm and facial hair, deepening voice, rapid height growth, acne

Prognosis Galactosemia

Even with dietary management, still some long-term complications Ovarian dysfunction, cataracts, abnormal speech, cognitive impairment, growth restriction, motor delay Research on replacing depleted metabolites, gene therapy may improve prognosis

DM Nursing Care Management

Exercise Precautions If blood glucose greater than 240, spilling ketones, and diabetes in poor control do not exercise until control achieved Do not place insulin injection in limb to be exercised Glucose may drop 6-12 hours after activity has taken place so check blood glucose at bedtime and/or during the night

Other Treatment Issues: GH Deficiency

FDA has approved the use of growth hormone in children for these conditions Growth hormone deficiency Chronic Renal failure Turner syndrome Prader-Willi syndrome SGA Idiopathic short stature Costly treatment $20-$30,000 a year Not cheap. Treatment will vary by country and size of child. Insurance will not pay unless the deficit is documented as decreased growth hormone production. Many insurance companies require a documentation of the diagnosis with test results obtained with 2 provocative stimuli. That show decreased levels. Provocative stimuli include insulin induced hypoglycemia, arginine and levodopa.

Diagnostic Evaluation GH Deficiency

Family history Child's history History of growth patterns Physical examination Psychosocial evaluation Radiographic surveys Endocrine studies Family history - to determine if short stature is normal for genetic background. Child's history: prenatal history. Compare birth height and weight with gestational age. Are usually normal size and normal gestation age at birth. Also inquire about chronic problems (anemia, etc) that may cause growth problems. Growth pattern: Any child who is only as tall as children two or more years younger or who falls away from a previously normal growth curve should be evaluated by a pediatric endocrinologist. The purpose of the evaluation is to verify whether or not there is an absence of GH and or other organic causes Physical exam: accurate height and weight. Compare body proportions (upper and lower body), sexual development to determine if age-appropriate. Radiographic studies to determine bone age Endocrine studies to determine hormone deficiencies, other problems. May require hospitalization so that levels throughout the day/night can be collected.

Congenital Hypothyroidism Nursing Care Management: Signs of under dosage of thyroid medication

Fatigue Sleepiness Decreased appetite Constipation

Prognosis without treatment CAH

Female changes without treatment Pubic and auxiliary hair, deepening of voice, enlargement of clitoris, facial hair and temporal baldness. No breast development, menstruation or fertility at puberty. Both sexes will have premature epiphyseal closure (dwarfed adults)

Classical Non-salt wasting

Females present with a varying degree of genital virilization Both males and females do not manifest the salt-losing problems as they have normal aldosterone. They lack only cortisol. Non-classical problems can arise later in life, the 3rd form. Precocious puberty signs advanced bone age, hirsutism and menstrual irregularities and both male and female can have problems with infertility.

Therapeutic Management Type 2

Focus on nutrition and increased physical activity Treatment plan should address the life style and risk factors of the entire family to be effective Metformin is the only oral diabetic agent approved for youths. Insulin may also be used especially initially Blood sugar monitoring

DM Nursing Care Management General management

General management for when the child is at home involves lots of anticipatory guidance and patient teaching. Teach patient/family about hypoglycemia including S/S, how to give insulin, how to check blood sugar, diet and exercise, etc Children can start to give their own insulin through injections around 9 years of age. Story of kiddo who came into the ER who kept a very detailed notebook journal of his blood sugar and how he felt. Kids with diabetes might seem very mature / responsible. This is good! A different concern is with parents who don't want their child to be independent because the parents are scared. Example: parent doesn't want child to go away to college, encourages child to stay home. Parents continues to manage / monitor diabetes when adolescent should be doing this.

Long-term Complications DM

Nephopathy Retinopathy Neurophathy Hypertension Atherosclerosis CV disease

Nursing Care Management GH Def.

Identify children with growth problems Importance of accurate measurement Plotting accurately on growth charts Assist with diagnostic tests Teach how to administer GH Provide support Guilty parents Teased child GH treatment is expensive Human Growth Foundation Assisting with diagnostic tests: Blood samples might be taken every 30 minutes for 3 hours. This is a lot of needle pokes for a kid! If insulin is used to provoke GH release, then monitor for hypoglycemia. Children often have a hard time overcoming hypoglycemia. If propranolol or clonidine is used to provoke GH release, then monitor BP for hypotension. (Clonidine is an alpha 2 adrenergic agonist. Usually given for hypertension, or given to kids for ADHD. Propranolol is beta blocker) This might not be diagnosed until adolescence when the child's growth and development (or lack thereof) becomes extremely distinct from their peers. Parents may feel guilt over not seeking treatment earlier. Child may have been teased by peers over their appearance and "immaturity." Human growth foundation can offer education, support and advocacy.

Congenital Hypothyroidism Nursing Care Management

Identify disorder early Ensure newborn screening is completed accurately Genetic counseling Anticipatory guidance to parents Teach necessity of life-long treatment Medication compliance Signs of hypothyroidism and hyperthyroidism Parents often report that infants with undiagnosed CH are "such good babies - so quiet" - nurses need to be astute to the possibility of CH.

Ketoacidosis

If glucose is unavailable for cellular metabolism, the body uses fat as energy source Fat breaks down into ketone bodies Excess ketones are eliminated in the urine (ketonuria) or the lungs (acetone breath) Ketones in the blood (ketonemia) are strong acids that lower pH, producing ketoacidosis To compensate, potassium is released into the bloodstream and excreted by the kidney Loss is accelerated by osmotic diuresis Total body potassium is decreased, even though serum potassium levels are elevated Potassium imbalance can lead to cardiac arrest In response to _______________, body attempts to eliminate excess carbon dioxide (acid) by increasing deptha nd rate of respirations - KUSSMAUL RESPIRATIONS

DM Nursing Care Management Hospital management

If the patient is hospitalized for DKA or initial diagnosis, monitor VS frequently. Concern is hypotension. Also monitor electrolyte levels. Strict I/O. Once the "critical" period is over, get child and family involved so THEY can be in control / manage care. Realize that patients used to be hospitalized for 2 weeks following initial diagnosis of DM. Now, they might only be in the hospital for 1-2 days! This is hardly enough time to get in adequate teaching. DON'T try to bombard them with the teaching, either, because they won't retain it! Instead, get them appointments with a diabetic educator, nutritionist, etc. Provide frequent teaching, but provide only short amounts of information at a given time.

Pathophysiology CAH

In utero the developing fetus' pituitary senses a lack of cortisol It therefore attempts to force the adrenals to produce cortisol by stimulating the gland Since there is no cortisol or aldosterone being made by the fetal adrenal gland the only thing that is produced is androgens (excessive) Leads to in utero virilization of the fetus There may be sufficient or insufficient aldosterone and cortisol produced Classic salt wasting Insufficient aldosterone and cortisol Classic non-salt wasting Sufficient aldosterone Insufficient cortisol Non-classical Less severely affected. Variable manifestations. Girls do not have ambiguous genitalia. Masculization of the urogenital system occurs at approximately 10th week of fetal development. Due to excessive stimulation of the Adrenal gland by the the pituitaty ACTH increased production of ACTH. Causes hyperplasia of the adrenal gland. Hence the name.

Diabetes Mellitus Type 2

Increased incidence in children in recent years especially adolescents Majority of children have a first-or-second degree relative with the disease Ethnic predisposition Environmental factors of obesity, inactivity and diets high in fat and refined carbohydrates contribute to the problem

Therapeutic Management: Desired blood glucose levels

Infants may be allowed 100-200 levels Toddlers and preschoolers Before meals 100-180 Bedtime 110-200 A1c less than 8.5% but greater than 7.5% School age (6-12) Before meal 90-180 Bedtime 100-180 A1c less than 8% Increased levels allowed in Infant to avoid damage to the development of the nervous system and brain. Hard to recognize hypoglycemia in infants and often damage can be done before realize it. Hemoglobin A!C average BS over 8-12 weeks HBA1C Recommended for adult Diablese 7% equals an averaqge blood sugar of 150 over the last 8 weeks. Norm is 4-6% =50-115 blood sugar 8 = 180 9=215 10=250 11=280 12=315

Diabetes Mellitus Type 1

Most common endocrine disease in children Peak incidence between 10 and 15 years but can occur at any age usually before 20 years Incidence 20 per 100,000 Most prominent in Caucasians Absolute insulin deficiency Genetic Predisposition is Inherited Genetic susceptibility to ____________diabetes is conferred by the human leukocyte antigen (HLA) on chromosome 6. Pancreatic islet cell antibodies (ICA) are found in 70-85% of patients newly diagnosed with ____________

Growth and Development Issues Preschooler (3-6 years)

Initiative vs. guilt Child may interpret diagnosis as punishment for real or imagined offenses May suffer a set back in self-esteem need positive reinforcement Fear of injections Parental support needed Diet concerns : Unpredictable appetite and food intake Hypoglycemic episodes Diagnosis of diabetes often is interpreted by the child as punishment for real and imagined offenses. I.E. "I hit my sister, so I am getting a shot." They feel they are responsible for the illness. Their task is initiative vs guilt. When diabetes is diagnosis during this age children suffer a set back in self-esteem. May regress to clinging, bed wetting, or soiling or temper outbursts or night sweats. Patents are cautioned to avoid power struggles negate outbursts of temper. Fear of injection is a big concern. Play with dolls and syringes may help overcome fears. Consistent loving reassurance from parent or caretaker to ease the anxiety and fear. Involvement in the process of care is important. Preschoolers encourage to help with the simple tasks of diabetes management ie pinch skin, wipe alcohol or wash area. Start right away. Encourage parents to stay with the child in the Hospital. The child needs support from the parents to help meet the child's needs for security, affection, and praise and discipline. Needs to develop more confidence to learn to manage his diabetes.

Clinical Manifestations DM type 2

Insidious onset Overweight May have the 3 P's Weakness, fatigue May have frequent infections due to yeast (vaginal and UTI) Insulin resistance Hypertension Elevated LDL and triglycerides Acanthosis Nigricans Polycystic ovary syndrome (PCOS) Screening Recommendations Type 2: May have blurry vision. Slow onset. Criteria for screening type 2 diabetes in children. BMI> 85% for age/gender plus two of the following risk factors: Race/ethnic group American Indian, Hispanic, Pacific Islander, or African American Signs or symptoms of Insulin resistance: Increased blood sugar, Hypertension, LDL,HDL cholesterol levels elevated and Polycystic Overy Syndrome (girls). PCOS often include menstrual problems, facial hair and acne. Ovaries secrete testosterone. Endocrine implications. Start at age 10 or onset of puberty and every two years do a fasting plasma glucose levels for high risk individuals.

DM Pathophysiology

Insulin is needed for metabolism of carbohydrates, fats and proteins Hyperglycemia --> glycosuria and polyuria as a compensatory mechanism to rid the body of excess glucose This leads to depletion of other essential chemicals, especially potassium Protein wasting Body is in state of starvation Polyphagia only perpetuates the problem Protein wasting. Because glucose is unable to enter the cells, protein is broken down and converted to glucose by the liver. This glucose adds to the problem of hyperglycemia.

Therapeutic Management Type 1

Insulin therapy Monitor blood sugar Nutrition and exercise Prevent hypoglycemia Illness management

Congenital Hypothyroidism Nursing Care Management: Signs of over dosage of thyroid medication

Irritability or nervous Tremor or insomnia Loose stools or weight loss Increase of appetite Fever, sweating Tachycardia or palpitations (teach to count pulse)

Precocious Puberty Medication

LHRH analogs or synthetic hormones that block the body's production of the sex hormones. Given IM once every 4 weeks. Usually see no side effects. Girls: decrease in breast size or at least no more development Boys: the penis and testicles may shrink back to normal size. Height will also slow down to the expected rate before puberty Discontinue when puberty is expected Medication leuprolide acetate (Lupron Depot) given in a dose of 0.2-0.3 mg/kg IM LHRH luteinizing hormone-releasing hormone which regulates pituitary secretions Delayed puberty Boys 13 ½- 14, or if genital growth is not complete 4 years after testicles begin to enlarge. Girls 13 with no signs of breast development or menarch has not occurred within 2-2.5 years of onset of breast development.. Without testicular enlargement or breast development

Classic Salt Wasting or Salt Losing form

Most severely affected. Females present with ambiguous genitalia at birth. Both males and females will present with a salt-losing adrenal crises in the first weeks of life due to the absence of both the mineralcorticoids and cortisol Symptoms of hypovolemic shock due to excessive sodium losses, dehydration, and elevated potassium blood levels will occur. Similar to Addisonian Crises. (Acute adrenal insufficiency in Adults)

DM Nursing Care Management Teaching and anticipatory guidance

Lots of patient teaching! Teaching of the skills (how to check blood sugar, draw up insulin, inject insulin, rotate sites, etc) and teaching about nutrition and exercise (counting carbs, adjusting insulin based on blood sugar, etc). Think about anticipatory guidance, as well. Anticipate things that might be a concern. Example: child's first slumber party following diagnosis. Or child going to camp or to stay with grandparents WITHOUT parents. Also anticipate adolescence when teens are naturally pushing limits and trying new things (like junk food, drugs, alcohol). The financial implications of being diagnosed with DM as a child: This is a chronic disease - child will always have DM. Accucheck tester strips are EXPENSIVE. Insulin syringes are pricey. Insulin Pens. What about insulin pumps? Also, this is a patient that can't be without health insurance. This is another important consideration!!! And when the child becomes an adult and gets their own insurance, will this be a "pre-existing condition" and might their health insurance be denied or they have a large premium???

Clinical Manifestations CAH

Male born with CAH External genitals appear normal Genitalia and Skin creases may be slightly darker due to increased ACTH Immediate diagnosis with male is less likely Internal sex organs remain normal Infants fail to gain weight, have weakness, vomiting and dehydration Salt-losing crisis Hyponatremia, hyperkalemia, cardiac arrest If untreated, precocious puberty Untreated CAH results in early sexual maturation, with enlargement of external sex organs, development of axillary, pubic and facial hair, deepening of voice, acne. However, breasts do not develop in the female! In the male, testes remain small. Linear growth is accelerated and epiphyseal closure occurs prematurely, resulting in short stature by the end of puberty

Prognosis without treatment CAH

Male changes without treatment Penis will hypertrophy between 18 months and 5 years and secondary sex characteristics will appear Rapid growth, deepening voice, acne, pubic and auxiliary hair and muscular development will occur Gonads will fail to develop and child will be sterile as an adult

Precocious Puberty

Many causes Idiopathic, trauma, infection, neoplasm, related to other endocrine disorders

Therapeutic Management PKU

Meet child's nutritional need for growth and maintain phenylalanine levels with in a safe range Restrict Dietary Protein 20-30 mg of phenylalanine per kilogram per day is allowed keep blood levels with in 2-8 mg/dl (Infant) and 2-10 mg/dl (Child) Diet is individualized for each child Special Phen-free formulas Breast feeding is allowed with careful monitoring as it has a low phenylalanine content

Therapeutic Management DM

Methods of administration Subq at least 2 times a day with two types of insulin Regular and NPH Tight control involves Multiple Dose Injections of 3 or more a day to cover food intake. Lispro to cover meals and Lantis at bedtime for basal control for 24 hours. Insulin Pump Sites for administration of insulin: Abdomen, back of arms, outside thigh, buttocks. MDI Multiple Dose Injections Base amount of insulin on the Insulin to carbohydrate Gram ratio. Based on the number of Grams of carbohydrate the patient plans to eat. 4 doses of insulin Rapid acting just before eating meals or snacks, Lantis Long acting at bedtime. Based on carb/Insulin ration. 1 unit to 10 grams of carbohydraes. Vey flexible. Old method 2 shot with short acting and intermediate acting insulin to cover 24 hours. Multiple dose injections usually is humalog/novalog

Nursing Care Management Hypoglycemia signs and symptoms

Mild symptoms (adrenergic) Sweating, pallor, nervous, palpitations, tremulousness, hunger, cold, clammy Moderate reactions (neuroglycopenic and adrenergic) Weakness, dizziness, headache, drowsiness, irritable, loss of coordination, disorientation Severe reaction (neuroglycopenic) Seizures, semi comatose or coma, slurred speech, staggering gait, combative, confused Moderate reactions Brain Hypoglycemia. BS less than 80 alert and oriented mild symptoms BS less than 80 refuse to eat and drink and/or dizzy and irritable Moderate reaction Bs less than 80 unconscious and seizure confused or combative severe reaction. Best thing to do after the immediate crisis / danger is over: order them a meal tray!!!

Nursing Care Management Treatment of Hypoglycemia

Mild to moderate reaction 10-15 grams of simple carbohydrate Follow with a complex carbohydrate and protein Retest blood sugar in 15-30 minutes Severe reaction Administer Glucagon Emergency 911 for 50% IV glucose Children are usually able to detect hypoglycemia but need to experience it first to let know how it feels. May need help to get food and treat especially younger children. Parents must learn to recognize children's behaviors and when in doubt take blood sugar. When in doubt treat. Young children sometimes fake attacks to get sweets. Some children have very individual reactions that are atypical to hypoglycemic attacks. This needs to shared with people in his environment. Use glucose cake frosting get with moderate levels. Glucagon for severe. Page 4 Instructions for Glucagon needs to be mixed when given. Other things can use for low blood sugar management and adjust amounts for age. With severe reaction place patient on side and maintain an open airway.

Nursing Care Management DM Sick day management

Monitor blood glucose every 2-4 hours Do NOT stop taking insulin Monitor urine for ketones (Strip) every 2-4 hours Maintain hydration If able to tolerate food take soft bland foods and 8 oz of fluid per hour Notify health care practitioner if vomiting and BS above 240

Nursing Care Management Diabetic Ketoacidosis

Occurs most frequently in adolescents due to noncompliance or changes in hormone levels. Often the first indication of presence of Diabetes and child ends up in the hospital in full blown Ketoacidosis Blood sugar above 240, Ph less than 7.3, Ketosis, Ketonuria, impaired consciousness, fruity odor to breath, Kussmaul's respirations, dehydration, Electrolyte imbalances etc. Treatment in ICU same as adult hydrate with normal saline and maintain renal function, monitor blood glucose and ketones, Insulin drip, cardiac monitor, for hypokalemia and hyperkalemia, close monitoring of electrolytes, Urine output Foley cath gastric suction Dextrose added to IV with glucose gets to 250-300 Na bicarbonate is used conservatively as needed. If hyperglyceia is not treated in a timely manner will turn into DKA. Child's body will start to utilize fat stores for energy. Increased ketones in blood. 3 P/s present. Urine and blood ketones. Acetone smell to breath, Kussmaul's respirations the body tries to blow off co2. Deep and rapid breathing pattern. Insulin drip is used with normal saline until blood sugar drops to 250. Then add dextrose to IV. Weigh child to determine amount of dehydration and then hydrate with Normral saline for 24-48 hours to treat dehydration. If PH is less than 7 give NaBicarb. Check K levels and monitor movement in and out of cell. After fluids and Insulin given K will go back into cells and possibly deplete extracellular fluid and will need to be replaced. Cardiac monitor to guide K therapy. Bedside monitoring of Bld glucose and ketones hourly. O2 Gastric suction as needed. Foley maybe used to monitor urine output and monitor ketones.

PKU

Phenyl ketones one of the abnormal metabolites accumulate in the blood and are excreted from the body by the kidneys. One of these Phenyl ketones (phenylpyruvic acid) gives urine the characteristic musty odor associated with the disease and is responsible for the term phenylketonuria. The mental retardation occurs before the metabolites are detected in the urine and progress if phe levels are not lowered. The mousey odor takes a while to develop. The clinical manifestations will occur if not treated or high levels are not detected by the blood tests. Untreated children may also have problems with eczema and skin problems as well as growth retardation especially boys.

PKU

Phenylalanine can't get excreted and accumulates in blood stream Severe phenylalanemia damages brain and CNS Mental retardation will occur if not corrected. Autosomal Recessive Highest incidence in US and Northern Europe Primarily affects Caucasian children

Clinical Manifestations Congenital Hypothyroidism Prior to six weeks of age:

Poor feeding Lethargy Prolonged neonatal jaundice Respiratory difficulty & bradycardia Constipation Hoarse cry Large fontanels Manifestations seen after birth (if not identified and treated sooner) are subtle and hard to find due to effect of exogenous source of prenatal thyroid hormone supplied by the maternal circulation. Classical symptoms of untreated CH appear after approximately 6 weeks of life and include the typical facial features.

Precocious Puberty Signs Girls

Premature thelarche Premature pubarche Premature menarche Breast development, pubic hair or underarm hair, a "growth spurt" in height, onset of menstruation acne, body odor.

Diagnostic Evaluation CAH

Presence of ambiguous genitalia Signs and symptoms of adrenal insufficiency Newborn screening of cortisol precursor in all 50 states U/S for internal sex organs Chromosomal studies Internal organs Ovaries and uterus fallopian tubes etc Lab (24 hour urine for presence of 17-ketosteroid levels) Appearance of acute adrenal insufficiency in the 2nd through 7th week of life. Child with classical non-salt wasting or non-classical may go undiagnosed for years Problems adjusting to stressful situations Stress can trigger adrenal insufficiency episode.

Precocious Puberty Nursing Care Management

Provide support and anticipatory guidance Dress and activities should be appropriate for chronological age Sexual interest usually match's child's age After puberty, child is no longer different from peers Child is fertile but no form of contraception is recommended unless the child is sexually active Teach parents and child injection procedure if needed Dress a 3 year old as a 3 year old not as a 13 year old. Do not accentuate changes. Contraception with birth control and estrogen pills will prematurely initiate epiphysis closure resulting in stunted growth. Medication regulate pituitary secretion is given IM. GH is given subcutaneously.

Central precocious puberty (CPP)

Puberty occurs due to premature activation of the hypothalamus or the pituitary

Peripheral Precocious Puberty (PPP)

Puberty occurs due to presence of sex hormones from some other abnormal source

Surgery

Recession (size reduction) of the clitoris, separation of labia, creation of a vaginal orifice can be done Best done before 17 months of age (old enough to experience surgery but before aware of abnormal genitalia Plastic surgery is done in stages and often will need several surgeries to correct and revise later

GH Replacement Therapy

Replacement of GH is effective in 80% of children Synthetic growth hormone is used 25-50mcg/kg daily injections (subq or IM) usually given at bedtime Growth 4-4.8 inches the first year and 2.7-3.5 following year Epiphyseal closure is definite criterion to stop therapy Biosynthetic GH is available and is preferred over human GH (obtained from cadavers). CJD a rare fatal neuo degenerate disease was transmitted through human tissue. Creutzfeldt Jakob disease. Growth hormone is supplied as a powder and must be mixed daily as given. Some receive daily injections, some 3-4 a week. Optimum dosing is at bedtime as the physiologic release of growth hormone by the body is during the first 45-90 minutes after onset of sleep. Usually a prompt increase in growth rate after treatment starts (usually noticeable within three or four months.) then the rate slowly declines over time but continues to be greater than would be without treatment. The decision as to when to stop meds is made jointly by parents, child, and doctor. Consider stopping treatment when growth slows to less than 1-2 inches per year. But usually epiphysis closure is definitive criteria to stop. Average length of treatment 6.5 years. Minimal side effects of medication. Arthralgia, myalgia, injection site reaction, edema. May see worsening of scoliosis and slipped cap epiphysis.

Therapeutic Management CAH

Surgical gender assignment controversial Unfortunately, this is not always diagnosed at birth, and some girls are mistaken and raised as boys. If surgical gender assignment is being considered, place emphasis on function rather than cosmetic outcomes. This often leads to a delay in surgery.

Nursing Care Management: PKU

Teaching family dietary restrictions Teach to read food labels! Awareness of how many foods have phenylalanine Maintaining diet restrict easy during infancy Difficult with toddlers and older children Support: camps, family support, prenatal testing, genetic counseling Prognosis: "Average" mental cognition Tend to have lower IQ's than those without PKU, but are still on the spectrum of average Check soda pop labels - has phenylalanine Family support essential. Difficulties to remain on diet as child gets older. Adolescence a hard time. Studies show a gradual decline in diet compliance with consequent increases in blood phe levels during early adolescence and young adulthood. Easy with infants to maintain diet because their diet if largely cereals, fruits and veggies. *** A ¼ lb hamburger may provide a 2 day phenylalanine allowance for a school-age child. This means that a school-age child should not consume anything else with Phenylalanine for two days following consumption of a hamburger. Reflect on the importance of food and meals in this culture and how it is a social activity. Dietary compliance often declines during adolescence and early adulthood. Good theme to note: adolescence is a difficult time of compliance with other diseases, too (diabetes)

Food Labels Galactosemia

The labels of all processed foods must be read carefully for ingredients which are milk products. The milk products to be avoided in processed foods are milk, casein, dry milk solids, lactose, curds and whey. The milk proteins casein and caseinate must be limited in the diet. They can provide large amounts of galactose if many foods or large amounts of any food containing casein are eaten. The following products may be used because they do not contain lactose: lactate, lactic acid, lactylates and calcium compounds. Food labels should be checked every time, since the ingredients in food products can change without notice. MedicineLactose is often used as a filler or inactive ingredient in medicines, and might not be listed on the package. The best way to ensure that a medication does not contain fillers with galactose is to ask a pharmacist. They should have access to information about medication ingredients. If possible, have a pharmacist be aware of what medication ingredients are unacceptable to you. This is the most effective way of avoiding galactose-containing medications. Many people develop a standard letter to present to pharmacists that describes galactosemia and the ingredients that should be avoided. Dietary SupplementsDietary supplements should be taken only when recommended by your doctor or health care professional. Federal regulations require that these products be labeled for the percentage of US RDA nutrients; fillers or inactive ingredients are not listed. Because lactose may be used as a filler in some dietary supplements, it is important to check with a pharmacist to ensure a supplement does not contain any hidden sources of galactose. Milk and milk products are the usual dietary source of calcium. Because persons with galactosemia remove milk products from their diet, they need to add calcium back into their diet through supplements. All people with galactosemia should have a regular daily supplement of calcium either from a soy formula or tablets. Consult your doctor or nutritionist to find out how much calcium supplementation is right for you.