chapter 48: Nursing care of the child with an alteration in metabolism/endocrine disorder:

Nursing analyses:

After completing a thorough assessment, the nurse identifies issues or concerns related to endocrine function and develops goals/outcomes, interventions, and evaluations. The issues or concerns for a child with endocrine dysfunction may include: Alteration in nutrition status Hypvolemia or Fluid Overload Delayed Growth and Development Risk Altered Body Image Perception Knowledge deficiency Altered health maintenance Altered family functioning Caregiver Fatigue Risk

Nursing assesment:

Assessment involves obtaining a health history to identify the indications for this condition. Assessment of the growth pattern using correct techniques and standards for comparison is essential. On physical assessment, note absence of secondary sex characteristics as noted above. Laboratory and diagnostic testing rules out other causes for delayed puberty. Blood levels of reproductive hormones may also be evaluated.

Congenital adrenal hyperplasia:

CAH is a group of autosomal recessive inherited disorders in which there is an insufficient supply of the enzymes required for the synthesis of cortisol and aldosterone. More than 90% of the cases of CAH are caused by a deficiency of 21-hydroxylase (21-OH) enzyme (White, 2016b). It is the most common type of adrenocortical insufficiency seen in children with an incidence of about one in 15,000 to 20,000 live births

pathophysiology

Central DI results from a deficiency in the secretion of ADH. This hormone, also known as vasopressin, is produced in the hypothalamus and stored in the pituitary gland. ADH is involved in concentrating the urine from the kidneys by stimulating reabsorption of water in the renal collecting tubules through increased membrane permeability.

Pathophysiology for precocious puberty:

Central precocious puberty, the most common form, develops as a result of premature activation of the hypothalamic-pituitary-gonadal axis that results in the production of gonadotropin-releasing hormone (GnRH), which stimulates the pituitary to produce luteinizing hormone (LH) and follicle-stimulating hormone (FSH). These hormones in turn stimulate the gonads to secrete the sex hormones (estrogen or testosterone). The child develops sexual characteristics, shows increased growth and skeletal maturation, and has reproductive capability.

challenges:

Challenges related to educating children with DM include: Children lack the maturity to understand the long-term consequences of this serious chronic illness. Children do not want to be different from their peers; having to make lifestyle changes may result in anger or depression. Poor families may not be able to afford appropriate food, medication, transportation, and telephone service. Families may demonstrate unhealthy behaviors, making it difficult for the child to initiate change because of the lack of supervision or role modeling. Family dynamics are affected because management of diabetes must occur all day, every day. Among the topics to include when teaching children and their families about diabetes management are: Self-measurement of blood glucose (Fig. 48.9) Urine ketone testing Medication use (Fig. 48.10)Oral diabetic agentsSubcutaneous insulin injection or insulin pump useSubcutaneous site selection and rotationWhen to alter insulin dosagesUse of glucagon to treat severe hypoglycemia Signs and symptoms of hypo- and hyperglycemia (refer to Comparison Chart 48.4) Treatment for hypo- and hyperglycemia at home or other setting such as school Monitoring for and managing complications (see above) Sick-day instructions Laboratory testing and follow-up care Diet and exercise as part of DM management (see above)

Pathophysiology for cogenital adrenal hyperplasia

Classic 21-OH enzyme deficiency results in blocking the production of adrenal mineralocorticoids and glucocorticoids. A reduction of cortisol occurs, which leads to increased adrenocorticotropic hormone (ACTH) production by the anterior pituitary to stimulate adrenal gland production. Prolonged oversecretion of ACTH causes enlargement or hyperplasia of the adrenal glands and excess production of androgens, leading to male characteristics appearing early or inappropriately. In males, the enzyme deficiency of 21-OH with excessive androgen secretion leads to a slightly enlarged penis, which may become adult sized by school age, and a hyperpigmented scrotum. Males do not have obvious signs at birth but may enter puberty by 2 to 3 years of age. The female fetus develops male secondary sexual characteristics; thus, CAH causes ambiguous genitalia in girls. The clitoris is enlarged and may resemble the penis, the labia have a rugated appearance, and the labial folds are fused, but the internal reproductive organs, including the ovaries, fallopian tubes, and uterus, are normal. A milder form of 21-OH deficiency becomes evident later (genitals are normal at birth), in the toddler or preschool years, with premature adrenarche (early sexual maturation), pubic hair development, accelerated growth velocity, advanced bone age, early closure of the epiphyseal plates resulting in short stature as an adult, acne, and hirsutism (excessive body hair growth). Males usually have normal fertility while females may have lower fertility. Aldosterone insufficiency also leads to fluid and electrolyte imbalances, such as hyponatremia, hyperkalemia, and hypotension due to depletion of extracellular fluid. Cortisol insufficiency leads to hypoglycemia.

hypothyroidism pathophysiology:

Congenital hypothyroidism is due to a defect in the development of the thyroid gland in the fetus due to a spontaneous gene mutation, an inborn error of thyroid hormone synthesis resulting from an autosomal recessive trait, pituitary dysfunction, or failure of the CNS-thyroid feedback mechanism to develop. Transient primary hypothyroidism may also occur; it results from transplacental transfer of maternal medications, maternal thyroid-blocking antibodies, iodine deficiency, and fetal or neonatal exposure to excessive iodines

Disorders of Thyroid Function: Congenital hypothyroidism

Congenital hypothyroidism, also known as cretinism, usually results from failure of the thyroid gland to migrate during fetal development (Lafranchi & Huang, 2016). This results in malformation or malfunction of the thyroid gland, which leads to insufficient production of the thyroid hormones that are required to meet the body's metabolic and growth and development needs. Congenital hypothyroidism leads to low concentrations of circulating thyroid hormones It occurs over a wide range of ethnic groups, though less among African Americans, and is more common in girls than boys (Lafranchi, 2020a). Complications include intellectual disability if untreated, short stature, growth failure, and delayed physical maturation and development

Diabetes Insipidus

DI can be classified into two types—nephrogenic DI and central DI. Nephrogenic DI can be transmitted genetically (e.g., sex-linked, autosomal dominant, or autosomal recessive forms) or be acquired due to chronic renal disease, hypercalcemia, hypokalemia, or use of certain drugs such as lithium, amphotericin, methicillin, and rifampin. Central DI is characterized by excessive thirst (polydipsia) and excessive urination (polyuria) that is not affected by decreasing fluid intake. Typically, this disorder occurs in children as a result of complications from head trauma or after cranial surgery to remove hypothalamic-pituitary tumors such as craniopharyngioma. Some cases can be hereditary; however, 10% of central DI cases in children are idiopathic

Diabetes mellitus:

DM is a common chronic disease seen in children and adolescents. In DM, carbohydrate, protein, and lipid metabolism are impaired. The cardinal feature of DM is hyperglycemia. The major forms of diabetes are classified as: Type 1, which is caused by a deficiency of insulin secretion due to pancreatic β-cell damage. Type 2, which is a consequence of insulin resistance that occurs at the level of skeletal muscle, liver, and adipose tissue with different degrees of β-cell impairment. Other types of diabetes secondary to certain conditions such as cystic fibrosis, glucocorticoid use (as in Cushing syndrome), infections, and certain genetic syndromes such as Down syndrome, Klinefelter syndrome, and Turner syndrome

Delayed Puberty

Delayed puberty is a condition of delayed secondary sexual development. In girls, it exists if the breasts have not developed by age 12 and in boys, it exists when no testicular enlargement or scrotal changes have occurred by age 14. The most common cause for delayed puberty is a hereditary pattern of growth and development known as constitutional delay (or a "late bloomer") Hypogonadism also may result when there is decreased stimulation of the gonads due to dysfunction or tumors in the hypothalamus or pituitary gland. Other causes include irradiation, infection, trauma, or genetic syndromes such as the Turner or Klinefelter syndrome. Another common cause is a chronic condition such as anorexia or cystic fibrosis.

Maintaining adequate nutrition:

Determine body weight and length/height norm for age or what the child's pretreatment measurements were to determine goal to work toward. Weigh daily or weekly (according to physician order or institutional standard) and measure length/height weekly to monitor for appropriate growth. Determine child's food preferences and provide favorite foods as able to increase the likelihood that the child will consume appropriate amounts of foods. Instruct child and family about nutritional requirements so that they are involved and are prepared for home care. Refer to dietitian for more detailed information and assistance. Offer highest-calorie meals at the time of day when the child's appetite is the greatest to increase likelihood of increased caloric intake. Provide increased-calorie shakes or puddings within dietary restrictions: high-calorie foods increase weight gain. Administer vitamin and mineral supplements as prescribed to attain/maintain vitamin and mineral balance in the body.

Diabetes insipidus

Diagnostic tests used to evaluate DI include: Radiographic studies such as CT scan, MRI, or ultrasound of the skull and kidneys can determine whether a lesion or tumor is present. Urinalysis: urine is dilute, osmolality is less than 3,000 mOsm/L, specific gravity is less than 1.005, and sodium is decreased. Serum osmolality is greater than 300 mOsm/L. Serum sodium is elevated. Fluid deprivation test measures vasopressin release from the pituitary in response to water deprivation. Normal results will show decreased urine output, increased urine specific gravity, and no change in serum sodium.

Disorders related to adrenal gland function

Disorders of the adrenal gland include acute and chronic adrenal insufficiency (hypofunction) and disorders of hyperfunction, such as Cushing syndrome. The adrenal cortex is the site of production of glucocorticoids (for blood glucose regulation), mineralocorticoids (for sodium retention), and androgenic and estrogenic steroid compounds (for phallic and secondary sex development). The adrenal medulla is the site of production of the catecholamines (dopamine, norepinephrine, and epinephrine) and is under neuroendocrine control.

Treatment:

Early treatment is often associated with better prognosis and prevention of long-term problems. The next step in treatment involves identifying underlying causes for the dysfunction (e.g., a tumor or growth that requires surgical removal or irradiation). The use of supplemental hormone in cases of hypofunction is generally successful in children, as is the use of inhibiting substances in cases of hyperfunction.

Laboratory and diagnostic testing:

Every infant should have a newborn screen for thyroid hormone levels before discharge from the hospital or 2 to 4 days after birth (American Academy of Pediatrics, 2006, reaffirmed 2011; LaFranchi, 2020a). When the test is performed within the first 24 to 48 hours along with other metabolic screenings, the result may be inaccurate because of the immediate increase in thyroid-stimulating hormone (TSH) shortly after birth (American Academy of Pediatrics, 2006, reaffirmed 2011). Radioimmunoassay is used to measure levels of T4, which accurately reflect the child's thyroid status. If the T4 level is low, then a second confirming laboratory test is performed, as well as determining whether the TSH is elevated.

Nursing assesment:

Explore the health history for oligomenorrhea (irregular, infrequent periods) or amenorrhea. Symptoms typically emerge at or soon after puberty but often go undiagnosed. Note weight in relation to standardized growth charts and calculate body mass index (BMI) to determine whether the girl is overweight or obese.

Nursing assessment:

For a full description of the assessment phase of the nursing process, refer to the Assessment section of the Nursing Process Overview earlier in the chapter. Pertinent assessment findings related to precocious puberty are discussed below. Physical examination may reveal acne and an adult-like body odor. The child will present with an accelerated rate of growth. The Tanner staging of breasts, pubic hair, and genitalia reveals advanced maturation for the child's age, but the child does not typically display sexual behavior.

Nursing assessment:

For a full description of the assessment phase, refer to the Assessment section of the Nursing Process Overview earlier in the chapter. Assessment findings pertinent to DI are discussed below.

growth hormone deficiency (pathophysiology):

GH deficiency is generally a result of the failure of the anterior pituitary or hypothalamic stimulation on the pituitary to produce sufficient GH. This lack of GH impairs the body's ability to metabolize protein, fat, and carbohydrates. Primary causes of GH deficiency include injury to, or destruction of, the anterior pituitary gland or hypothalamus. Causes include a tumor (e.g., craniopharyngioma), infection, infarction, CNS irradiation, abnormal formation of these organs in utero, or damage or trauma during birth or after. It may also be part of a genetic syndrome, such as Prader-Willi syndrome or Turner syndrome, or the result of a genetic mutation or deletion.

Growth hormone deficiency:

GH deficiency, also known as hypopituitarism or dwarfism, is characterized by poor growth and short stature. GH is vital for postnatal growth. It is released throughout the day, with most secreted during sleep. GH stimulates linear growth, bone mineral density, and growth in all body tissues.

Educating the family:

GH is available as a powder that is mixed with packaged diluents. Most are available in multidose pen delivery systems, with some systems not requiring reconstitution. Explain how to prepare the medication and give the correct dosage. Encourage rotation of sites in the subcutaneous tissue to prevent skin irritation. Have the family provide a return demonstration to make sure they understand correct dilution and administration of GH. Continue to provide periodic evaluation and ongoing support.

Hormones:

Hormones are chemical messengers that stimulate and/or regulate the actions of other tissues, organs, or other endocrine glands that have specific receptors to a hormone. Alterations in metabolism develop in the endocrine system when there is a deficiency (hypofunction) or excess (hyperfunction) of a specific hormone. In children, alterations in metabolism/endocrine conditions often develop insidiously and result from an insufficient production of hormones. If the problem is not diagnosed and treated early, delayed growth and development, cognitive impairments, or death may result.

hyperthyroidism:

Hyperthyroidism is the result of hyperfunction of the thyroid gland. This leads to excessive levels of circulating thyroid hormones. This condition is uncommon in children. The peak incidence in children occurs in adolescence as a result of Graves disease Graves disease is an autoimmune disorder that causes excessive amounts of thyroid hormone to be released in response to human thyroid stimulator immunoglobulin (TSI). It occurs five times more often in girls than in boys (Huang & LaFranchi, 2016). A goiter usually develops in this condition. There is a genetic marker in individuals affected by Graves disease, with the majority of children having a positive family history of autoimmune thyroid problems Therapeutic management is aimed at decreasing thyroid hormone levels. Current treatment involves antithyroid medication, radioactive iodine therapy, and subtotal thyroidectomy. First-line treatment involves methimazole This therapy is administered orally and results in tissue damage and destruction of the thyroid gland within 6 to 18 weeks, but it can result in hypothyroidism. Subtotal thyroidectomy is used when drug therapy is not possible or other treatments have failed. Risks include hypothyroidism, hypoparathyroidism, or laryngeal nerve damage.

Acquited hypothyroidism:

Hypothyroidism also occurs as an acquired condition. This disorder most commonly results from an autoimmune chronic lymphocytic (Hashimoto) thyroiditis.\As a genetic condition, antibodies develop against the thyroid gland, causing the gland to become inflamed, infiltrated, and progressively destroyed. It occurs more often in girls during childhood and adolescence (Lafranchi, 2018a). Less common etiologies include hypothyroidism associated with pituitary or hypothalamic disease or exposure to drugs or substances such as antithyroid medications, anticonvulsants, lithium and amiodarone that interfere with thyroid hormone synthesis, thyroid injury such as radiation, thyroidectomy, and hemangiomas, and iodine deficiency or excess

Nursing assesment:

In general, nursing management of the child with precocious puberty focuses on educating the child and family about the physical changes the child is experiencing and how to correctly use the prescribed medications and helping the child to deal with self-esteem issues related to the accelerated growth and development of secondary sexual characteristics. Goals of nursing management include appropriate physical development and pubertal progression appropriate for age.

Precocious Puberty:

In precocious puberty, the child develops sexual characteristics before the usual age of pubertal onset. Puberty, also known as sexual maturation, occurs when the gonads produce increased amounts of sex hormones. Typically, this occurs around 10 to 12 years of age for girls and 11 to 14 years of age for boys. In precocious puberty, secondary sex characteristics develop in girls before the age of 8 years and in boys younger than 9 years. The disorder is more common in females and the majority of the time the cause is unknown in females, while in males a structural CNS abnormality is often present

Hyperthyroidism

Initially, symptoms of hyperthyroidism are mild and often overlooked. Many children with hyperthyroidism are first seen in the outpatient setting with a history of a problem with sleep, school performance, and distractibility. They become easily frustrated, overheated, and fatigued during physical education class. The child may complain of diarrhea, excessive perspiration, and muscle weakness. The history may also reveal hyperactivity, heat intolerance, emotional lability, and insomnia. Physical examination of the older child may reveal an increased rate of growth; weight loss despite an excellent appetite; hyperactivity; warm, moist skin; tachycardia; fine tremors; an enlarged thyroid gland or goiter; and ophthalmic changes (exophthalmos, which is less pronounced in children; proptosis; lid lag and retraction; staring expression; periorbital edema; and diplopia) (Fig. 48.4). Elevated pulse and blood pressure may also be noted. Laboratory and diagnostic tests reveal that serum T4 and T3 levels are markedly elevated while TSH levels are suppressed.

Blood glucose monitoring: Insulin replacement therapy

Insulin replacement therapy is the cornerstone of management of type 1 DM. Insulin is administered daily by subcutaneous injections into adipose tissue over large muscle masses using a traditional insulin syringe or a subcutaneous injector

Nursing assesment:

Interview the family and child to determine activity tolerance and behavior changes. The symptoms may develop over a period of time and may be subtle. Note vague complaints of fatigue, weakness, weight gain, cold intolerance, constipation, and dry skin. The severity of symptoms depends on the length of time that the hormone deficiency has existed and its extent. Reviewing the growth pattern may reveal a slowed or arrested growth rate (height) and increased weight. Physical examination may reveal a goiter (enlargement of the thyroid gland). Deep tendon reflexes may be sluggish and the face, eyes, and hands may be edematous. Note thinning or coarse hair, muscle hypertrophy with muscle weakness, and signs of delayed or precocious puberty. The diagnostic evaluation involves serum thyroid function studies (TSH, T3, and T4) as well as serum thyroid antibodies to confirm autoimmune thyroiditis. MRI and a thyroid uptake test and scan may also be necessary.

Providing family support

Make sure the family of a newborn with ambiguous genitalia feels comfortable asking questions and exploring their feelings. There are many issues to consider, such as whether the family will reassign the child's sex or raise the child with the original assignment at birth. The birth certificate may pose a problem if the state requires identification of sex. Cultural attitudes, the parents' expectations, and the extent of family support influence the family's response to the child and the decision-making process related to sex assignment and surgical correction. If corrective surgery is immediately decided upon, then typical surgical concerns for newborns will need to be addressed. In general, laypeople do not understand adrenal function and what this diagnosis may mean to the family. Provide families with privacy to discuss these issues, and offer emotional support. When referring to the infant, use terms such as "your baby" instead of the pronouns "he," "she," or "it" and describe the genitals as "sex organs" instead of "penis" or "clitoris." Refer families to the CARES Foundation

Promoting appropriate growth:

Measure and record growth at regular intervals. Thyroid levels are measured at recommended intervals, such as every 2 weeks until the target range is reached on a stabilized dose of medication, then every 1 to 2 months until the child is 1 year old, every 1 to 3 months until the child is 3 years old, and becoming less frequent as the child gets older

Metabolism:

Metabolism refers to all physical and chemical reactions occurring in the body's cells that are necessary to maintain and sustain life. Nurses encounter potential and actual alterations in metabolism in all types of clients and must detect problems and intervene early to prevent life-threatening or long-term complications. The endocrine system consists of various glands, tissues, or clusters of cells that produce and release hormones.

Physical examination:

Most infants are asymptomatic until the first month, when they begin to develop clinical signs. Inspection and observation reveal a lethargic baby or a child with hypotonia, hypoactivity, and a dull expression. A combination of lethargy and irritability may exist, with an overall delayed mental responsiveness. Measurements of weight and height may reveal delayed growth. Other findings may include a persistent open posterior fontanel, coarse facies with short neck and limbs, periorbital puffiness, enlarged tongue, and poor sucking response

Inspection and obserbation:

Note a fatigued appearance, poor muscle tone, sweatiness, faintness, nervousness, or confusion. Inspect the head and face, and note hair texture and growth, a protuberant tongue, drooping eyelids, or exophthalmos (protrusion of the eyeballs). Plot the child's height and weight on growth charts to determine abnormal growth velocity, which occurs in many of these disorders.

Health history:

Nursing assessment involves obtaining a history of any conditions that led to the development of the disorder. This review includes information about the neonatal period as well as a current history of infections such as meningitis, diseases such as leukemia, or familial patterns. Although most symptoms of endocrine disorders develop slowly, the onset of this disorder is abrupt. The health history usually elicits the cardinal symptoms as well as complaints representing the early signs of dehydration. The most common initial symptoms reported are polyuria and polydipsia (Breault & Majzoub, 2016a; Bichet, 2019). Except for unconscious children, the child typically maintains adequate perfusion by drinking water. The parent or child may report frequent trips to the bathroom, nocturia, or enuresis.

Health history and physical examination

Obtain the health history, noting history of abnormal genitalia at birth in the infant. In the toddler or preschooler, note history of accelerated growth velocity and signs of premature adrenarche. Upon inspection of the infant's genitalia, note a large penis in the boy and ambiguous genitalia in the girl

Nursing management:

Once the treatment plan is initiated, educate the family and child about the medication and potential adverse effects, the goals of treatment, and possible complications. Monitor for adverse drug effects such as rash, mild leukopenia, loss of taste, sore throat, GI disturbances, and arthralgia. If the medication is given two or three times a day, teach the family to use a pill dispenser and alarm clock. Inform the family of the need for routine blood tests and follow-up visits with the pediatric endocrinologist every 2 to 4 months until normal levels are reached; then, visits may be decreased to once or twice a year. Instruct the parents to contact the physician or nurse practitioner if the child has tachycardia or extreme fatigue.

Polycystic ovary syndrome

Polycystic ovary syndrome (PCOS), also referred to as functional ovarian hyperandrogenism or ovarian androgen excess, is an endocrine disorder that produces a variety of symptoms in adolescent girls and women. The exact cause is unknown. Testosterone production by the ovaries and adrenal cells is excessive, causing hirsutism, balding, acne, increased muscle mass, and decreased breast size. Polycystic ovaries may or may not be present. Complications of excess androgen production in women include infertility, insulin resistance, and hyperinsulinemia, leading to diabetes mellitus (DM), increased risk for endometrial carcinoma, and cardiovascular disease.

Laboratory diagnostic test:

Radiologic examinations and pelvic ultrasound identify advanced bone age, increased uterus size, and development of ovaries consistent with the diagnosis of precocious puberty. Laboratory studies include screening radioimmunoassays for LH, FSH, estradiol, or testosterone. The child's response to GnRH stimulation confirms the diagnosis of central precocious puberty versus gonadotropin-independent puberty. This test involves administering synthetic GnRH intravenously and drawing serial blood levels, about every 2 hours, of LH, FSH, and estrogen or testosterone

Syndrome of Inappropairte Antidiuretic:

SIADH occurs when ADH (vasopressin) is secreted in the presence of low serum osmolality because the feedback mechanism that regulates ADH does not function properly. ADH continues to be released, and this leads to water retention, decreased serum sodium due to hemodilution, and extracellular fluid volume expansion. herapeutic management of SIADH includes correcting the underlying disorder in addition to fluid restriction and intravenous sodium chloride administration to correct hyponatremia and increase serum osmolality.

laboratoey diagnostic test for growth hormone deficiency:

The child will undergo laboratory tests to rule out chronic illnesses such as renal failure or liver and thyroid dysfunction. Laboratory and diagnostic tests used in children with suspected GH deficiency include: Bone age (as shown by radiographs) will be two or more deviations below normal. CT or MRI scans rule out tumors or structural abnormalities. Pituitary function testing confirms the diagnosis. This test consists of providing a GH stimulant such as glucagon, clonidine, insulin, arginine, or L-dopa to stimulate the pituitary to release a burst of GH. Peak GH levels below 7 to 10 ng/mL in at least two tests confirm the diagnosis.

Therapeutic managements:

The clinical treatment for precocious puberty first involves determining the cause. For example, if the etiology is a tumor of the CNS, the child undergoes surgery, radiation, or chemotherapy. The treatment for central precocious puberty involves administering a GnRH analog. This is available as a subcutaneous injection given daily, an intranasal compound given two or three times each day, a depot injection given every 3 to 4 weeks, a depot injection given quarterly, or a subcutaneous implant yearly. This analog stimulates gonadotropin release initially but when given on a long-term basis will suppress gonadotropin release. With this treatment, the growth rate slows and secondary sexual development stabilizes or regresses. Medroxyprogesterone injections (Depo-Provera) or tablets (Cycrin) reduce secretion of gonadotropins and prevent menstruation.

Nursing management:

The focus of the evaluation for GH deficiency is to rule out chronic illnesses such as renal failure, liver disorders, and thyroid dysfunction. The health history may reveal a familial pattern of short stature or a prenatal history of maternal disorders such as malnutrition. The past history may be significant for birth history of intrauterine growth retardation or past history of severe head trauma or a brain tumor such as craniopharyngioma. In addition to the linear height being at or below the third percentile on standard growth charts, the physical assessment findings may show that the child has a higher weight-to-height ratio Other physical findings may include prominent subcutaneous deposits of abdominal fat; a child-like face with a large, prominent forehead; a high-pitched voice; delayed sexual maturation (e.g., micropenis and undescended testes in boys); delayed dentition; delayed skeletal maturation; and decreased muscle mass.

Promoting growth

The goal of growth promotion is for the child to demonstrate an improved growth rate, as evidenced by at least 3 to 5 in in linear growth in the first year of treatment without complications. With early diagnosis and treatment, the child has a better prognosis for reaching a normal adult height. Growth is usually excellent in the first year of therapy compared to later years The child with GH deficiency often has younger-looking features and is shorter than his or her peers. Encourage the child to express positive feelings about his or her self-image, as shown by comments during health care visits as well as involvement with peers.

Therapeutic management:

The goal of treatment is to stop excessive adrenal secretion of androgens while maintaining normal growth and development. Most children with 21-OH deficiency will take a glucocorticoid such as hydrocortisone and the mineralocorticoid fludrocortisone (Florinef) for life. Infants may also require sodium supplementation. When the medications are taken at physiologic doses, there are no adverse effects, but if the drug levels become elevated, hypertension, growth impairment, and acne become a problem. Regular follow-up care and appropriate titration maintain the dose at appropriate levels to allow normal growth and development.

Hormone production and secretion:

The hypothalamic-pituitary axis produces a number of releasing and inhibiting hormones that regulate the function of many of the other endocrine glands, including the thyroid gland, the adrenal glands, and the male and female gonads. Some glands regulate their function in connection with the nervous system, such as the islets of Langerhans in the pancreas and the parathyroid glands. The process of hormone production and secretion involves the principle of feedback control. One gland produces a hormone that affects another endocrine gland. Once the physiologic effect is achieved, this gland, known as the target organ, inhibits the further release of the original hormone. T

Laboratory testing

The most common type of CAH, 21-OH enzyme deficiency, is detected by newborn metabolic screening. If this test has not been done or the results are unavailable, obtain random hormone levels or levels associated with ACTH stimulation. Radiographs reveal advanced bone age and premature closure of epiphyseal plates of the long bones.

Parathyroid gland:

The parathyroid glands secrete parathyroid hormone (PTH). This hormone, along with vitamin D and calcitonin, regulates calcium/phosphate homeostasis by increasing osteoclastic activity, absorption of calcium and excretion of phosphate by the kidneys, and absorption of calcium in the GI tract. The two disorders associated with parathyroid gland dysfunction are hypoparathyroidism and hyperparathyroidism.

Therapeutic management:

Treatment for DM must occur as part of a multidisciplinary health care team, with the family and child as a central part of that team. In the past, the child would be admitted to the hospital for 3 to 5 days for stabilization and education, but today the trend is toward treating children on an outpatient basis. Established glucose control is essential in reducing the risk of long-term complications associated with DM. Therefore, general goals for therapeutic management include: Achieving normal growth and development Promoting optimal serum glucose control, including fluid and electrolyte levels and near-normal hemoglobin A1c or glycosylated hemoglobin (which is hemoglobin that glucose is bound to and it monitors long-term control of blood sugars and diabetes) levels Preventing complications Promoting positive adjustment to the disease, with ability to self-manage in the home The key to success is to educate the child and family so they can self-manage this chronic condition. Therapeutic management involves blood glucose monitoring; daily injections of insulin and/or administration of oral hypoglycemic medications; a realistic and well-balanced diet; an exercise program; and self-management and decision-making skills.

Pathophysiology:

Type 1 DM is an autoimmune disorder that occurs in genetically susceptible individuals who may also be exposed to one of several environmental or acquired factors, such as chemicals, viruses, or other toxic agents implicated in the development process. As the genetically susceptible individual is exposed to environmental factors, the immune system begins a T-lymphocyte-mediated process that damages and destroys the β cells of the pancreas, resulting in inadequate insulin secretion. This deficiency of insulin leads to an inability of cells to take up glucose. The end result is hyperglycemia, glucose accumulation in the blood, and the body's inability to use its main source of fuel efficiently. The kidneys try to lower blood glucose, resulting in glycosuria and polyuria, and protein and fat are broken down for energy. The metabolism of fat leads to a buildup of ketones and acidosis (see discussion of diabetic ketoacidosis below).

Therapeutic management:

Unless a tumor is present (in which case it is removed by surgery), the usual treatment of central DI involves a low solute diet (low sodium and low protein), daily replacement of ADH, and/or use of a thiazide diuretic (Bichet, 2019). The drug of choice for home treatment is DDAVP, a long-acting vasopressin analog (Breault & Majzoub, 2016a). In children, it is typically given intranasally. However, it can also be administered subcutaneously, orally, or buccally. The drug is given every 8 to 12 hours. The dose depends on the child's age, urine output, and urine specific gravity. Treatment of DI and the use of DDAVP in infants and small children are challenging and complicated due to their inability to access fluids and articulate thirst In the hospital, the child may receive aqueous vasopressin, 8-arginine vasopressin (Pitressin), intravenously (Breault & Majzoub, 2016a). This is a short-acting drug, so the dosage can be adjusted quickly.

important drug:

growth hormone (stimuatel linear bone and skeletal muscle growth) Octerotide acetate (supressec GH release) corticosterois (dexamethasone or hydrocortisone: (cortisol replacement in congnital arenal hyperplasia) desmopression acetate (synthetic antidiuretic hormone that promtoes reabsoprtion of water by action on renal tubules) levothyroxine (thyroid hormone replacement) methimazole (antihyroid drug) moneralcortioid (promotes reabsorption og Na and K, water from distal renal tubules)

Common laboratroy and diagnostic test:

metabolic screening random serum hormon levels self monitoring blood glucose fasting plasma glucose 2 hours pasma glucose test urine or serumketone testing hemoglobin A1C genetic testing serum chemistry level Growth homrone stimulation water deprivation study bone age radioapht other nuclear medicine stuides computed tomography magnetic reasonannc imaging ultrasonography

Therapeutic management:

o prevent intellectual disability and restore normal growth and motor development, thyroid hormone replacement with sodium L-thyroxine (Synthroid, synthetic thyroxine, or Levothroid) is given. The recommended starting dosage is 10 to 15 μg/kg/day (American Academy of Pediatrics, 2011; LaFranchi, 2020b). There are no adverse effects with physiologic doses, but thyroid function tests are performed initially every 2 weeks to closely monitor for effects and to ensure proper dosing. Since thyroid hormone is vital to the infant's developing CNS, the goal is to normalize thyroid function as quickly as possible.

Health History:

The health history should include questions regarding any family history of an endocrine disorder or growth and development difficulties. Use a genogram or family tree to detail the information about the family history in a clear and concise manner. Discuss present complaints or illness. Note onset of symptoms, whether gradual or sudden. Endocrine disorders often cause problems in normal growth and development as well as behavioral changes. Question the parent or caregiver about prior growth patterns, achievement of developmental milestones, and the child's behavior. Inquire about recent increases or decreases in weight and height, changes in physical appearance, sleep patterns, muscle weakness, cramps, twitching, or headaches.