Endocrinology
androgenic alopecia
A 25-year-old man presents with progressive hair loss at the vertex area with hair thinning at both temporal areas for the last 3 years. He is otherwise healthy and does not take any medications. On physical exam, there is diffuse hair loss over the central scalp, with frontal and bitemporal recession. He is estimated as type IV according to the Norwood-Hamilton classification. There is no clinical evidence of inflammation or fibrosis. Hair-pull test is negative.
Multiple Endocrine Neoplasia (MEN)
A 25-year-old woman presenting with renal colic also complains of new-onset headaches, fatigue, and constipation. Her menstrual cycle is regular and she has not experienced episodes of flushing. Her weight is unchanged and her peripheral vision is normal. Family history reveals that her father had kidney stones and died of a "stomach problem" in his 60s. Examination is unremarkable with visual fields full to confrontation.
Diabetic kidney disease
A 25-year-old woman with a 12-year history of poorly controlled type 1 diabetes presents with anasarca (severe generalized edema) and impaired vision. She is found to have nephrotic syndrome and proliferative diabetic retinopathy.
diabetes insipidus
A 44 year old man has been drinking large quantities of water, up to 12 L/day for the last week. In addition, he has been passing large quantities of urine. Upon physical examination, there are no remarkable findings except for increased capillary refill time and tacky mucous membranes. Laboratory results show sodium 106mmol/L, potassium 4.2mmol/L., chloride 123mmol/L, and bicarbonate 27mmol/L. His fasting serum glucose is 80mg/dL and creatinine 1.2mg/dL. His serum osmolality is 343 mOsm/kg. What condition does this patient suffer from?
Addison's disease
A 48-year-old man has a 4-month history of increasing fatigue and anorexia. He has lost 12.2 lb (5.5 kg) and noticed increased skin pigmentation. He has been otherwise healthy. His mother has Hashimoto thyroiditis and one of his sisters has type 1 diabetes. His blood pressure is 110/85 mmHg (supine) and 92/60 mmHg (sitting). His face shows signs of wasting and his skin has diffuse hyperpigmentation, which is more pronounced in the oral mucosa, palmar creases, and knuckles.
supportive therapy
A 49 year old man presents to the office complaining of general malaise with muscle aches, anorexia, fever and severe pain over this anterior neck radiating to his ears. He states that he was ill about 2 weeks ago with a sore throat, but it resolved within a few days. On palpation, the thyroid gland is enlarged and tender. His lab workup shows a high T4 level and increased ESR. What is the most appropriate therapy for this patient's disease?
subacute painful thyroiditis
A 49 year old man presents to the office complaining of general malaise with muscle aches, anorexia, fever and severe pain over this anterior neck radiating to his ears. He states that he was ill about 2 weeks ago with a sore throat, but it resolved within a few days. On palpation, the thyroid gland is enlarged and tender. His lab workup shows a high T4 level and increased ESR. What is this patient's condition?
Diabetic kidney disease
A 50-year-old man with a 15-year history of type 2 diabetes presents with edema, fatigue, and impaired sensation in the lower extremities. He is found to have proteinuria, a reduced estimated glomerular filtration rate (eGFR), anemia, background diabetic retinopathy, and peripheral neuropathy.
menopause
A 50-year-old white schoolteacher presents complaining of night sweats and difficulty sleeping. She has also noticed a decrease in her libido and discomfort during intercourse. Her family complains that she is more irritable. She is worried about a 6 pound 10 ounce (3 kg) weight gain since her last visit 1 year ago. She has not had her period for 12 months; immediately prior to that her periods were lighter and shorter. On pelvic exam, the labia minora appear thin and the vaginal mucosa is slightly pale, but the rest of the physical exam is unremarkable.
weight bearing exercise
A 50-year-old woman who is otherwise healthy comes to the office for medical advice. She is perimenopausal, and is concerned about developing osteoporosis. In addition to recommending optimum calcium and vitamin D intake, which of the following is the most effective preventive measure?
Nonfunctional pituitary adenoma
A 52-year-old man presents with some difficulty driving at night and reports not seeing cars coming from the sides. He also describes progressive loss of libido and inability to obtain and maintain an erection, which started about 2 years ago. He reports bumping into things. He has gained about 11 lb (5 kg) in weight over the past 2 to 3 years. He has fatigue and is unable to do the same jobs that he used to do a year ago. The examination reveals moderate obesity (BMI 35) with some loss of muscle bulk over the proximal arm and leg muscle groups. Other positive findings include the presence of small bilateral gynecomastia, soft testicles (12 mL), and abnormal visual fields to confrontation, with bitemporal hemianopia.
Cushing's syndrome
A 54-year-old man presents for evaluation of an incidentally discovered adrenal nodule. He underwent a CT scan of the abdomen for evaluation of abdominal pain, which was negative except for a 2 cm well-circumscribed, low-density (2 Hounsfield units) nodule in the right adrenal gland. He reports weight gain of 15 kg over the past 4 years. He has difficult-to-control type 2 diabetes and hypertension. He has had 2 episodes of renal colic in the last 5 years.
Primary aldosteronism
A 54-year-old man presents with a 10-year history of hypertension that has been difficult to control with antihypertensive medications. His symptoms include frequent headaches, nocturia (3 to 4 times per night), and lethargy. He has no other medical conditions or past medical history. Apart from a BP of 160/96 mmHg, findings on physical examination are unremarkable. Plasma electrolytes are normal.
obesity
A 54-year-old woman with a height of 5 feet 4 inches (163 cm) and weight of 80.3 kg presents to her family physician with a chief complaint of vaginal bleeding. She is postmenopausal, and her medical history consists of hypertension, type 2 diabetes, hypercholesterolemia, osteoarthritis of both knees, and depression. She has also had a caesarean section and a cholecystectomy.
Addison's disease
A 54-year-old woman with hypothyroidism complains of persistent fatigue, despite adequate thyroxine replacement. She has noticed increasing lack of energy for the past 3 months and additional symptoms of anorexia and dizziness. She also has significant loss of axillary and pubic hair. Her blood pressure is 105/80 mmHg (supine) and 85/70 mmHg (sitting). The only abnormal finding on physical examination is a mild increase in thyroid size, with the thyroid having rubbery consistency.
diabetic retinopathy
A 55-year-old Hispanic man with a 15-year history of type 2 diabetes mellitus attends his optometrist with visual loss in his right eye, which cannot be corrected with eyeglasses. He is obese and hypertensive and has poor glycemic control with an HbA1c of 9.6%. Visual acuity is 20/100 right eye and 20/20 left eye. Retinal examination reveals microaneurysms, hard exudates, and thickening at the right macula, indicating right clinically significant macular edema.
Paget's disease
A 55-year-old man complains of persistently aching legs. He is initially diagnosed with fibromyalgia. However, his blood tests reveal an elevated serum alkaline phosphatase. Subsequent x-ray of the tibia and fibula shows defects in the cortical and cancellous bone, with some degree of tibial bowing, leading to a revised diagnosis of Paget disease.
reassurance & observation
A 12-year-old boy is being seen for concerns of development of breast tissue. Upon physical exam, his noted to have a firm, slightly tender mass under the left areola. What is the most appropriate action at this time?
Pseudohypoparathyroidism
A 12-year-old girl presents with short stature. She provides a history of muscle cramps and knots in her skin, and is obese with developmental delay. On exam she has a round face, hard subcutaneous nodules, shortened 3rd and 4th fingers bilaterally, and poor dental development.
Klinefelter syndrome
A 16-year-old boy is being evaluated for delayed puberty. He is found to have hypogonadism with testes measured at 1.5cm on the long axis. His face has a juvenile appearance and rounded body type. He has a karyotype of XXY. What is the diagnosis?
TSH
A 20-month-old baby girl presents with delayed dental eruption. Upon physical exam, the child is noted to have dry skin and slow deep tendon reflexes. Which of the following is most likely to reveal the cause?
presence of glutamic acid decarboxylase
A 25-year-old man presents to the clinic complaining of nocturnal enuresis, weight loss and blurred vision. On further questioning, he relates that he has increased appetite and thirst. His fasting blood glucose level is 225mg/dL. Which of the following would also be indicative of type 1 versus type 2 diabetes?
Autoimmune thyroiditis (Hashimoto disease)
A 26-year-old woman has decreased appetite, weight gain, cold intolerance, hoarse voice, constipation, and arthralgias. What is the most likely etiology of her condition?
visual field defect
A 26-year-old woman presents to the clinic with a 3-month history of galactorrhea and amenorrhea. Her serum HCG is negative and her serum prolactin is elevated 220. You suspect a pituitary adenoma. Which of the following physical exam findings is most likely to suggest a macroadenoma versus a microadenoma?
hypogonadism
A 27-year-old man presents for evaluation of infertility. He had a normal birth and early development, but did not undergo puberty. He has developed none of the typical male secondary sexual characteristics. He reports diminished libido, although he occasionally gets early morning erections. He is able to get an erection during sexual activity, provided he is sufficiently aroused. He married 3 years ago, but attempts to father a child have been unsuccessful. His wife has normal menstrual cycles and her gynecological exam is normal. On examination, the patient has sparse facial hair and low hair line. Minimal bilateral, nontender gynecomastia is present. The patient has a normal penis and scrotum, but the testes are small and firm with an estimated volume of 4 mL each.
Prolactinoma
A 27-year-old woman presents with amenorrhea. She had been taking the combined oral contraceptive pill for the last 9 years, stopping this 11 months ago. She is otherwise healthy, but on physical exam she has bilateral galactorrhea. Laboratory work-up reveals an elevated prolactin level of 150 micrograms/L (3000 mIU/L). Normal prolactin levels are up to 25 micrograms/L (500 mIU/L). She also had low-normal gonadotropin (luteinizing hormone [LH], follicle-stimulating hormone [FSH]) levels. Magnetic resonance imaging (MRI) examination of the pituitary sellar region depicts a 6 mm right-sided pituitary mass, with no suprasellar or parasellar extension.
gynecomastia
A 28-year-old man presents with increasing acne and painful, enlarged breasts. Eighteen months ago he started a body-building regimen including intense exercise and a "superman" androgen supplement. Physical examination reveals a body mass index of 27 kg/m²; pronounced musculature; tender, firm breast tissue 5 cm on the right and 7 cm on the left; and small (6 cm³), soft testicles bilaterally.
decrease her levothyroxine dosage
A 28-year-old woman is being treated for hypothyroidism with 200ug of levothyroxine daily. At a periodic dosage reassessment, her TSH was suppressed at 0.08mU/L and shse is symptomatic. What is the appropriate course of action?
Nonfunctional pituitary adenoma
A 28-year-old woman presents with headaches for the past 9 months that have worsened recently. Review of systems is otherwise negative except for some irregularity in her menstruation over the past year. On physical examination she has no stigmata for Cushing syndrome or acromegaly. Her visual fields by confrontation are normal and she has had no galactorrhea.
change to insulin
A 28-year-old woman with type 2 diabetes has maintained good control with metformin treatment in addition to diet and exercise. She expresses that she would like to become pregnant. What is the best advise for this patient regarding treatment of her diabetes?
Graves disease
A 29-year-old woman present to the office with complaints of poor sleep, irritability and nervousness. She appears anxious and restless. You note tachycardia and edematous skin change on the dorsum of her lower legs and feet. She has exophthalmos and a diffusely enlarged thyroid gland on exam. What condition does this patient suffer from?
high thyroid-stimulating antibodies
A 29-year-old woman present to the office with complaints of poor sleep, irritability and nervousness. She appears anxious and restless. You note tachycardia and edematous skin change on the dorsum of her lower legs and feet. She has exophthalmos and a diffusely enlarged thyroid gland on exam. Which of the following findings would be expected on further evaluation?
Hypoparathyroidism
A 30-year-old patient presents 2 months post-thyroidectomy. The patient has had symptoms of increased irritability, muscle spasms, and hair loss for the last month. On physical examination, a positive Chovstek sign is noted. Which of the following is the most likely diagnosis?
type 2 diabetes
A 30-year-old woman presents to the office with polyuria, fatigue, and a chronic white vaginal discharge with vaginal pruritis. She has been having the discharge off and on for the past 6 months with recurrent treatment failures. Which of the following is the most likely diagnosis?
Prolactin
A 35-year-old woman is being evaluated for irregular infrequent menstrual periods. On further questioning, she complains of headaches, fatigue, and breast discharge. She takes ibuprofen only occasionally. Which of the following labs would most likely be elevated in this patient?
pituitary adenoma
A 35-year-old woman is being evaluated for irregular infrequent menstrual periods. On further questioning, she complains of headaches, fatigue, and breast discharge. This patient's symptoms are suggestive of what condition?
adrenal glands
A 38-year-old man presents to the emergency department experiencing a severe headache and heart palpitations. He appears to be anxious and perspiring heavily. On exam, he is found to be tachycardic and his blood pressure is 158/102mmHg. His urine catecholamines are increased. If imaging were performed, what is the most likely location where a lesion would be found?
Pheochromocytoma
A 38-year-old man presents to the emergency department experiencing a severe headache and heart palpitations. He appears to be anxious and perspiring heavily. On exam, he is found to be tachycardic and his blood pressure is 158/102mmHg. His urine catecholamines are increased. What is the patient's most likely diagnosis?
give diet education and encourage continued exercise program
A 38-year-old man presents to the office following a health fair screening of his cholesterol because he was told that it is high. He watches his diet, plays tennis, exercises three to five times a week and appears in good physical condition. He is a nonsmoker, and has no family history of cardiovascular disease. His blood pressure today is 106/72mmHg. His lipid profile is total cholesterol of 202; HDL 65; LDL 128 and triglycerides of 145. Following a review of this patient's profile, which of the following would you recommend?
fine needle aspiration
A 39-year-old woman presents to the office for evaluation of a palpable nodule of 2 years' duration in the neck. She has no other symptoms. She has a history of low-dose chest irradiation for an enlarged thymus gland during infancy. On exam, a firm, nontender 2.5cm nodule is palpable in the left lobe of the thyroid. Her TSH level is normal. What is the next diagnostic step?
repeat fasting blood glucose
A 40-year-old obese woman presents for her annual physical exam. A fasting blood glucose level drawn with her routine lab tests is 130mg/dL. In order to confirm the diagnosis of diabetes mellitus, what would be the most appropriate next step?
Cushing's syndrome
A 41-year-old woman presents with complaints of weight gain, infrequent menses, and mood changes. You observe her to have moon facies, centripetal fat distribution, and purple striae on her abdomen. Her blood pressure is 152/98mmHG. These signs and symptoms are consistent with what condition?
Dexamethasone suppression test
A 41-year-old woman presents with complaints of weight gain, infrequent menses, and mood changes. You observe her to have moon facies, centripetal fat distribution, and purple striae on her abdomen. Her blood pressure is 152/98mmHG. What is the first step in confirming this diagnosis?
Papillary
A 45-year-old man with a history of neck irradiation for Hodgkin lymphoma at the age of 15 is found to have a 1.5cm, nontender, firm thyroid nodule. Upon lab evaluation, the patient is found to be euthyroid, and fine needle biopsy reveals malignancy. What histological type is most likely?
Thyroid crisis
A 45-year-old patient presents 2 days post-operatively with a partial thyroidectomy. She has been experiencing vomiting with diarrhea. On physical exam, her temperature is 101F and jaundice is noted. Her heart rate is irregularly irregular with a rate of 200bpm. What condition is this patient exhibiting?
PTU 600mg
A 45-year-old patient presents 2 days post-operatively with a partial thyroidectomy. She has been experiencing vomiting with diarrhea. On physical exam, her temperature is 101F and jaundice is noted. Her heart rate is irregularly irregular with a rate of 200bpm. What would be the most appropriate pharmacological intervention?
Amiodarone
A 45-year-old woman presents with weight gain, fatigue, dry skin, constipation and oligomenorrhea. On physical exam, bradycardia and slow deep tendon reflexes are noted. Her free T4 is low and TSH is elevated. Which of the following medications may be responsible for her condition?
ACEI
A 54-year old man with type 2 diabetes has a blood pressure of 146/92mmHg and 138/90mmHg on two separate occasions. Which of the following treatments offers the best outcomes to reduce cardiovascular complications of disease?
increase pancreatic insulin secretion
A 54-year-old woman is taking glyburide, a second generation sulfonylurea, to control her type 2 diabetes. Which of the following is the most likely mechanism of action on this patient's disease?
iodine ablation
A 55-year-old patient presents with tachycardia and heart palpitations. Physical exam shows a multinodular goiter. He does not have obstructive symptoms. He has suppressed TSH and elevated T3 and T4, and a thyroid scan shows multiple functioning nodules. What is the treatment of choice for this patient?
maintain her current therapy and recheck in 6 months
A 56-year-old woman is being seen for regular assessment and monitoring of her type 2 diabetes. She has been following a strict diet and exercise plan for 2 years with the addition of metformin 6 months ago for an increased HgA1c level. Her A1c at today's visit is 7.1. What is the appropriate management for this patient?
small cell lung cancer
A 63-year-old woman presents with shortness of breath, cough and proximal muscle weakness of 1-month duration. On clinical exam, she is noted to have a blood pressure of 156/112mmHg, facial flushing, mild hirsutism, truncal obesity, marked proximal muscle weakness of both the upper and lower extremity, and hyperpigmentation over the palms and back of the neck. Lab exam reveals hypercortisolism and increased ACTH. Which of the following would be the most likely primary diagnosis of this patient?
Paget's disease
A 65-year-old woman presents to the office with decreased hearing, and pain over her sternum, pelvis and her right tibial tubercle. On x-ray, the involved bones are noted to be expanded and denser than normal. Her serum calcium and phosphorus levels are normal but serum alkaline phosphatase level is markedly elevated. What is this patient's most likely condition?
tilundronate
A 65-year-old woman presents to the office with decreased hearing, and pain over her sternum, pelvis and her right tibial tubercle. On x-ray, the involved bones are noted to be expanded and denser than normal. Her serum calcium and phosphorus levels are normal but serum alkaline phosphatase level is markedly elevated. Which of the following would be the appropriate initial treatment for this patient?
<100mg/dL
A 67-year-old woman with type 2 diabetes is being treated for dyslipidemia. She does not have additional risk factors. What is the target LDL goal for this patient?
hyperparathyroidism
A 68-year-old woman complains of loss of appetite, weakness, fatigue, constipation and impaired memory. She has a history of two episodes of nephrolithiasis. Laboratory evaluation reveals calcium levels and PTH are high. What condition is this patient most likely suffering from?
bone fractures
A 68-year-old woman complains of loss of appetite, weakness, fatigue, constipation and impaired memory. She has a history of two episodes of nephrolithiasis. Laboratory evaluation reveals calcium levels and PTH are high. Which one of the following is a common manifestation of this disease?
Hyperglycemic Hyperosmolar State (HHS)
A 75-year-old man with type 2 diabetes presents to the emergency department with a 2 day history of confusion and lethargy. On physical exam, notable dehydration, tachycardia, and confused mental state is noted. Serum sodium, potassium, magnesium and chloride levels are normal. The arterial blood gases are normal and serum ketones are negative. Glucose is 700mg/dL and Osmolality is 380mOsm/kg. Given this information, what is the most likely diagnosis?
PTU 100mg TID
A patient seen at the prenatal clinic develops Graves disease at 25 weeks' gestation. Which of the following is the most appropriate treatment?
gestational diabetes
A previously healthy, 28-year-old pregnant female undergoes a routine prenatal glucose tolerance test. She is found to have increased serum glocuse levels at 1 hour and 3 hours following a glucose challenge. What condition are these findings indicative of?
Macrosomic Infant
A previously healthy, 28-year-old pregnant female undergoes a routine prenatal glucose tolerance test. She is found to have increased serum glocuse levels at 1 hour and 3 hours following a glucose challenge. What is the most likely consequence of gestational diabetes?
scrotal and testicular enlargement
An 11-year-old boy is being seen in the clinic for well-child check. His father inquires whether his son is starting to show physical signs of puberty. Which of the following is the first sign of puberty in males?
delayed skeletal maturation
An 8-year-old boy presents with parental concerns that his is the "shortest boy in the class". His growth chart indicates decreased growth velocity falling below the fifth percentile. Lab studies show subnormal growth hormone secretion. What additional finding would you expect to see in this child?
renal failure
An obese Type 2 diabetic is started on initial therapy to improve glycemic control. Which of the following would be contraindicated for treatment with metformin?
annually
How often should urine be obtained to screen for microalbuminemia in the management of type 2 diabetes?
HMG-CoA Reductase Inhibitors
When treating the dyslipidemia associated with type 2 diabetes, which of the following is the drug class of choice?
Carbemazepine
Which of the following drugs can cause SIADH?
Papillary
Which of the following is the most common type of thyroid cancer?
Parathyroid adenoma
Which of the following is the most likely cause of hypercalcemia in an ambulatory patient?
Metformin
Which of the following oral agents use to treat type 2 diabetes is effective in lowering fasting blood glucose levels without causing hypoglycemia?
Simvastatin
You are treating a 60-year-old man with a history of angina. He has been on the therapeutic lifestyle change diet for 12 weeks (with solid effort). THis patient has no other medical conditions and takes nitroglycerin as needed and daily enteric-coated aspirin. His fasting lipi panel from last week demonstrates the following: total cholesterol: 295; HDL: 48; LDL: 145. What is the most appropriate treatment at this time?
<160mg/dL
You are treating a healthy 50-year-old man with no cardiac risk factors. This patient has no other medical conditions and takes no medications. His fasting lipid panel from last week demonstrates the following: TC: 245; HDL: 60; LDL: 155. The LDL goal for this patient is?
liver impairment
You care considering the addition of glipizide therapy to the treatment regimen for a patient with type 2 diabetes. Which of the following would be a contraindication if present in this patient?
acromegaly
A 22 year old man is being evaluated for extremity enlargement unlike anyone in his family. Over the past 2 years, he has noticed that his rings no longer fit and his feet are so wide that he cannot find shoes to fit. He has always been tall for his age, greater than the 95th percentile throughout his teenage years. He has very coarse facial features, macrogolssia and a very deep voice. What is this patient's condition?
Rapid ACTH Stimulation Test
A 23 year old woman presents with joint pain, anorexia, amenorrhea and fatigue. On further questioning, she says that she has been craving salty foods, and gets dizzy easily when she stands. Upon physical exam, she is found to have darkened skin over her palms and extensor surfaces and postural hypotension. An 8am plasma cortisol level is low. What test is the gold standard to diagnose her condition?
Somogyi effect
A 23-year-old patient with type 1 diabetes has been having difficulty sleeping at night. Usually around 3am the patient will wake up feeling sweaty, nauseated, and tachycardic. His recorded blood glucose levels are 10pm: 90mg/dL; 3am: 40mg/dL; and 7am: 200mg/dL. What does these readings signify?
Acanthosis nigricans
A 25-year-old black woman presents complaining of asymptomatic dark skin accompanied by skin tags on her posterior neck and axilla. She admits to recent 30-pound weight gain. There is a positive family history of diabetes. On physical examination, she is markedly obese. There are hyperpigmented, papillomatous, velvety plaques bilaterally in her axillae, extending onto her back and posterior and lateral neck. Numerous soft, pedunculated skin-colored papules are present overlying and adjacent to the hyperpigmented areas. Blood tests show increased fasting blood glucose levels.
growth hormone deficiency
A 10-year-old girl presents with headaches and poor vision. At 9 years of age, an urgent MRI scan of her brain revealed a suprasellar solid/cystic mass diagnosed as a craniopharyngioma. She was treated with surgery and cranial irradiation. Her pituitary evaluation 3 months later revealed a peak GH concentration (after glucagon provocation) of 0.3 micrograms/L, a peak serum cortisol concentration of 3 micrograms/dL, a peak TSH concentration (after TRH stimulation) of 2.3 mU/L with a peak free T4 of 0.57 nanograms/dL, and a peak serum prolactin of 16 nanograms/mL. Her peak serum gonadotropin concentrations (after LHRH stimulation) were 2.6 international units/L (FSH) and 1.9 international units/L (LH). A diagnosis of GHD with combined pituitary hormone deficiencies was made.
type 1 diabetes mellitus
A 12-year-old white girl is brought to the emergency department by her parents due to 12 hours of rapidly worsening nausea, vomiting, abdominal pain, and lethargy. Over the last week she has felt excessively thirsty and has been urinating a lot. Physical examination reveals a lean, dehydrated girl with deep rapid respirations, tachycardia, and no response to verbal commands.
dysfunctional uterine bleeding (DUB)
A 15-year-old girl presents to the emergency room with a history of excessive vaginal bleeding that started yesterday but has been increasing since early morning. She indicates that she had her first period (menarche) at age of 13 years and since then her periods have been irregular and unpredictable. She denies any sexual activity and a pregnancy test is negative. She looks pale but her vital signs are stable. Exam reveals significant uterine bleeding that soaks one pad every 3 hours. She is admitted to the hospital.
acromegaly
A 15-year-old girl presents with primary amenorrhea and accelerated growth. On physical examination, her height is above the 90th percentile, her pubertal development is evaluated at Tanner stage 2, and she has soft-tissue swelling. Laboratory workup reveals a moderately elevated serum prolactin concentration of 44 micrograms/L (normal, <20 micrograms/L) and an elevated IGF-1 level of 1525 micrograms/L (normal for age, 198-551 micrograms/L). Pituitary MRI shows a 15 mm pituitary mass without parasellar extension.
anabolic steroid use disorder
A 17-year-old adolescent boy is brought into the office by his mother, who has concerns about her son's recent mood swings and aggressive behavior. He is involved in athletics and recently his team mates have been commenting on how much bigger, stronger, and faster he is becoming. He has had violent outbursts at school and has displayed sadness and withdrawal at home. He says that he has thought about suicide.
psychogenic polydipsia
A 20-year-old female college student presents with increased polydipsia and polyuria since childhood. She has a fluid intake of 6 to 8 liters, and a frequency of micturition of 20 to 25 times in a 24-hour period. She denies any psychiatric history, and there is no evidence of dehydration, neurologic abnormalities, or head trauma.
diabetic ketoacidosis
A 20-year-old man is brought to the emergency department with abdominal pain, nausea, and vomiting with increasing polyuria, polydipsia, and drowsiness since the day before. He was diagnosed with type 1 diabetes 2 years previously. He mentions that he ran out of insulin 2 days ago. Vital signs at admission are: BP 106/67 mmHg, heart rate 123 beats per minute, respiratory rate 32 breaths per minute, temperature 98.8°F (37.1°C). On mental status examination, he is drowsy. Physical examination reveals Kussmaul breathing (deep and rapid respiration due to ketoacidosis) with acetone odor and mild generalized abdominal tenderness without guarding and rebound tenderness. Initial laboratory data are: blood glucose 450 mg/dL, arterial pH 7.24, pCO2 25 mmHg, bicarbonate 12 mEq/L, WBC count 18,500/microliter, sodium 128 mEq/L, potassium 5.2 mEq/L, chloride 97 mEq/L, BUN 32 mg/dL, creatinine 1.7 mg/dL, serum ketones strongly positive.
pituitary microadenoma
A 22 year old man is being evaluated for extremity enlargement unlike anyone in his family. Over the past 2 years, he has noticed that his rings no longer fit and his feet are so wide that he cannot find shoes to fit. He has always been tall for his age, greater than the 95th percentile throughout his teenage years. He has very coarse facial features, macrogolssia and a very deep voice. What is the most likely cause of this patient's condition?
metabolic syndrome
A 27-year-old woman presents with abdominal obesity, hirsutism, acne, and polycystic ovaries on gonadal ultrasonography. She reports 3 to 4 menstrual periods per year. On examination, her BMI is 33 kg/m^2, waist circumference is 37 inches (94 cm), and BP is 130/83 mmHg. Her serum total testosterone level is elevated (101 nanograms/dL; normal range 20-75 nanograms/dL). She has an impaired fasting glucose (117 mg/dL), and the lipid profile shows high triglycerides (190 mg/dL), high total cholesterol (201 mg/dL) and LDL-cholesterol (125 mg/dL) levels, and low HDL-cholesterol (38 mg/dL) levels.
gestational diabetes
A 28-year-old woman first presents for prenatal care at 24 weeks of gestation. Past medical history is notable for irregular periods and class I obesity (BMI 30 kg/m²). The results of a 75-gram oral glucose tolerance test performed after an overnight fast are: fasting glucose 105 mg/dL (5.8 mmol/L); 1-hour glucose 200 mg/dL (11.1 mmol/L); and 2-hour glucose 160 mg/dL (8.9 mmol/L).
female infertility
A 28-year-old woman presents to her gynecologist with a complaint of inability to conceive for 1 year. She has 1 child. It took her 1 year to conceive that child. Her prenatal course was uncomplicated, although she required a cesarean section for failure to progress and chorioamnionitis. There were no postoperative complications, and the child is healthy. She has heavy menstrual cycles every 35 to 42 days without significant dysmenorrhea or dyspareunia. Her husband is 38 years old and is the father of her first child. He is healthy, takes no medication, and has no other children.
Primary aldosteronism
A 28-year-old woman presents with a 2-year history of hypertension, associated with nocturia (4 to 5 times per night), polyuria, palpitations, limb paresthesias, lethargy, and generalized muscle weakness. There is no other past medical history. Physical examination is unremarkable apart from a BP of 160/100 mmHg, global hyporeflexia, and weak muscles. Plasma potassium is 2.2 mEq/L, bicarbonate is 34 mEq/L, and serum creatinine is normal.
premenstrual syndrome
A 32-year-old single woman with no prior pregnancy presents for her annual wellness examination. She reports recurrent symptoms of fatigue, abdominal bloating, breast tenderness, increased appetite, and irritability that have occurred for many years, predominantly 1 week before the start of menses. The symptoms improved when she was on oral contraceptives during her 20s but recently have become more troublesome, interfering with her interpersonal relationships and her ability to perform optimally at work as a research assistant. Her last menstrual period ended 1 week ago. Physical examination reveals normal findings with normal breast and pelvic examination. She does not meet clinical criteria for depression.
Hypopituitarism
A 32-year-old woman presents to her doctor with a 10-month history of depression, hot flashes, weight gain, reduced libido, lethargy, cold intolerance, and amenorrhea. She delivered a healthy baby boy 10 months ago; however, the delivery was complicated by a significant postpartum hemorrhage requiring multiple blood transfusions. She was unable to breastfeed her baby and has been amenorrheic since that time. Physical exam is remarkable for a flat affect, bradycardia, weight loss, and delayed relaxation of her reflexes.
polycystic ovary syndrome (PCOS)
A 32-year-old women presents with a chief complaint of difficulty becoming pregnant. She was prescribed oral contraceptives at the age of 17 years because of irregular periods (4-6 periods per year). She continued with oral contraception until 30 years of age, at which point she and her husband decided they wanted to have a baby. Since ceasing oral contraception, she has gained 15 pounds and has only 3 to 5 periods per year. She has actively been trying to conceive, with no results.
Pheochromocytoma
A 33-year-old woman presents to her doctor complaining of a several-month history of episodic palpitations and diaphoresis. She states that her husband noticed that she becomes pale during these episodes. She has been experiencing progressive episodic headaches, which are not relieved by acetaminophen. In the past, she has been told that she had a high calcium level. She has a history of kidney stones. Her family history is unremarkable; specifically, there is no history for tumors, endocrinopathies, or hypertension. Physical exam reveals a BP of 220/120 mmHg and hypertensive retinal changes.
female infertility
A 34-year-old nulligravid woman presents to her gynecologist with a complaint of inability to conceive. She has been married for 2 years and stopped using contraception 1 year ago. Her menstrual cycles occur regularly every 28 days and are associated with moliminal symptoms (breast tenderness, bloating, and mood changes). She denies dysmenorrhea or dyspareunia. She has no significant medical history, has never had a sexually transmitted disease, and has never had surgery. Her husband is 34 years old and has never fathered a child. He has a history of hypertension controlled by beta-blockers.
Cushing's syndrome
A 34-year-old woman presents with complaints of weight gain and irregular menses for the last several years. She has gained 20 kg over the past 3 years and feels that most of the weight gain is in her abdomen and face. She notes bruising without significant trauma, difficulty rising from a chair, and proximal muscle wasting. She was diagnosed with type 2 diabetes and hypertension 1 year ago.
premature ovarian failure
A 35-year-old woman has not resumed menses since stopping oral contraceptives 1 year ago. She reports normal puberty and regular menses both before and during her use of oral contraceptives. She had one normal pregnancy with a spontaneous vaginal delivery 3 years ago. She has no significant medical history except for mild hypothyroidism. She has noted occasional episodes of vaginal dryness and irritation and feels occasionally like someone has turned the temperature up in the room. Sexual intercourse has become increasingly uncomfortable. A physical exam demonstrates atrophic changes in the vagina. A pregnancy test is negative.
Graves disease
A 36 year old woman presents to the office complaining of weight loss and a feeling of "nervousness". She also complains of losing hair during the last several weeks. Exam reveals a diffusely enlarged, firm, nontender thyroid gland with an audible bruit. Her eyes have marked proptosis and lid retraction. Her TSH is very low; her free and total thyroid hormone levels are elevated. What is the most likely diagnosis?
Graves disease
A 38-year-old woman, who in the past had tried to lose weight without success, is happy to see that in the last 2 months she has lost 25 pounds. She also has difficulty sleeping at night. Her husband complains that she is keeping the house very cool. She recently consulted her ophthalmologist because of redness and watering of the eyes. Eye drops were not helpful. She consults her doctor for fatigue and anxiety, palpitations, and easy fatigability. On physical examination, her pulse rate is 100 bpm and her thyroid is slightly enlarged. Conjunctivae are red and she has a stare.
Hypopituitarism
A 40-year-old man has a 12-month history of progressive headaches, weight loss, poor appetite, lethargy, cold intolerance, and erectile dysfunction. He has difficulty seeing the periphery when driving his car. Physical exam is remarkable for bradycardia, gynecomastia, scant body hair, delayed relaxation of his reflexes, and bitemporal hemianopia.
Cushing's syndrome
A 40-year-old woman comes to the office because of 30 pound weight gain in the past six months, and development of reddish-purple stretch marks on her abdomen, hips, and breasts. She has also noticed muscle weakness in her arms and thighs. She takes no medications, and has no other medical problems. Temperature is 37°C (98.6°F), pulse rate is 88/min, respirations are 18/min, blood pressure is 152/92 mmHg, and BMI is 32. Physical examination shows truncal obesity, muscular atrophy of the arms and thighs, and purplish striae on the abdomen, hips, and breasts. Which of the following is the most likely diagnosis?
Thyroid cancer
A 40-year-old woman is found to have a 2-cm right-sided thyroid nodule during a routine physical examination. She has no history of head and neck irradiation or family history of thyroid cancer. The nodule is firm and mobile in relation to the underlying tissue. Vital signs and the remainder of the examination are normal.
Hypothyroidism
A 40-year-old woman visits her physician with a 4-month history of chronic headaches and visual problems. She has no past medical history. Review of symptoms reveals easy fatigability, cold intolerance, galactorrhea, and amenorrhea for the past 6 months. Physical exam findings include a bitemporal hemianopia, periorbital edema, normal-sized thyroid, bradycardia, galactorrhea, and vaginal atrophy.
Levothyroxine
A 42 year old woman has experienced recent weight gain, heavy periods, fatigue, cold intolerance, and constipation. She has a rough voice, and her rate of speech is slow. Physical examination is significant for an enlarged thyroid, slow reflexes, and the presence of brittle and coarse hair. She denies any history of bipolar disease or treatment with lithium. Laboratory tests show an elevated TSH and low free T4. What is the most appropriate treatment for this patient?
Hypothyroidism
A 42 year old woman has experienced recent weight gain, heavy periods, fatigue, cold intolerance, and constipation. She has a rough voice, and her rate of speech is slow. Physical examination is significant for an enlarged thyroid, slow reflexes, and the presence of brittle and coarse hair. She denies any history of bipolar disease or treatment with lithium. Laboratory tests show an elevated TSH and low free T4. What is the most likely condition from which this patient suffers?
hypogonadism
A 42-year-old man presents with a 4-month history of frontal headaches and decreased libido. The symptoms started gradually. In addition to decreased libido, the patient also complains of gradual loss of early morning erections. He has been married for 12 years and has 3 children. He denies any head or testicular injury. He also denies gynecomastia or galactorrhea. The only abnormality on his physical examination is bitemporal hemianopia on visual field testing.
diabetes insipidus
A 42-year-old man undergoes transsphenoidal surgery for a large, nonfunctioning pituitary macroadenoma. Preoperatively, dynamic pituitary hormone tests were normal, as was his fluid intake and output. Two days following surgery he developed acute polyuria, extreme thirst, and polydipsia. His urine output over the next 24 hours was 6 liters, with frequent nocturia.
hyponatremia and hyperkalemia
A 42-year-old woman is being evaluted in the office for progressive weakness, fatigue, poor appetite, and weight loss over the past four months. She also states that her skin tone appears darker than before, even in areas that are not exposed to the sun. Primary adrenocortical insufficincy is suspected. Which of the following laboratory findings is most likely to support the suspected diagnosis?
metabolic syndrome
A 43 year old obese man presents for a health maintenance visit. On physical exam, it is noted that his waist circumference is 106cm and blood pressure is 148/92mmHg. Fasting triglyceride leves of 190mg/dL would suggest what condition?
Hypercholesterolemia
A 43-year-old pilot presents for a stress test required by his employer. He states that there is a strong history of premature cardiac disease in his family and 2 of his older brothers are currently being treated for high cholesterol. System review is negative except for some mild shortness of breath with exercise. Examination demonstrates moderate abdominal obesity with a body mass index of 31 kg/m² and waist circumference of 40 inches (102 cm). The remainder of the exam is normal.
hydrocortisone, 300mg IV
A 43-year-old woman presents to the emergency department complaining of weakness, abdominal pain, fever, nausea and vomiting. On evaluation, she is found to have a blood pressure of 82/54mmHg, increased serum potassium, decrease serum sodium, and an increased BUN. A cosyntropin stimulation test is unsuccessful. What advice is best for this patient?
Adrenal crisis
A 43-year-old woman presents to the emergency department complaining of weakness, abdominal pain, fever, nausea and vomiting. On evaluation, she is found to have a blood pressure of 82/54mmHg, increased serum potassium, decrease serum sodium, and an increased BUN. A cosyntropin stimulation test is unsuccessful. What is this patient's most likely diagnosis?
androgenic alopecia
A 43-year-old woman presents with a 9-month history of increased hair shedding with a reduction in hair volume over the mid-frontal scalp. She is otherwise healthy and does not take any medications, including oral contraceptives. On physical exam the central-scalp density is estimated as type II according to the Ludwig classification for female-pattern baldness, with moderate thinning and preserved frontal hair line. No temporal recession is noted. The hair-pull test is negative. No other causes of hair loss are identified.
antidiuretic hormone
A 44 year old man has been drinking large quantities of water, up to 12 L/day for the last week. In addition, he has been passing large quantities of urine. Upon physical examination, there are no remarkable findings except for increased capillary refill time and tacky mucous membranes. Laboratory results show sodium 106mmol/L, potassium 4.2mmol/L., chloride 123mmol/L, and bicarbonate 27mmol/L. His fasting serum glucose is 80mg/dL and creatinine 1.2mg/dL. His serum osmolality is 343 mOsm/kg. Which of the following hormone deficiencies is most likely present in this patient?
Hashimoto thyroiditis
A 45 year old woman presents with weight gain, fatigue, dry skin, and oligomenorrhea. On physical exam, the patient has a palpable thyroid mass over the right lobe. An ultrasound evaluation of the thyroid shows diffuse heterogeneous enlargement of the gland. Which of the following is the likely diagnosis?
Hyperglycemic Hyperosmolar State (HHS)
A 45-year-old African-American man with a history of type 2 diabetes is admitted directly from clinic for a serum glucose of 970 mg/dL. He was started recently on basal bolus insulin therapy after several years of treatment with oral antiglycemic agents. However, he reports not having filled his insulin prescription owing to its high cost. For the past 2 weeks he has had polyuria, polydipsia, and has lost 5 kg in weight. He has also noted a progressively worsening cough for approximately 3 weeks that is productive of greenish brown sputum. On examination, he is febrile with a temperature of 101.3°F (38.5°C), tachypneic (respiratory rate of 24 breaths per minute), and normotensive. Urinalysis reveals trace ketones but serum beta-hydroxybutyrate is not elevated. Serum bicarbonate is 17 mEq/L and venous pH is 7.32.
Zollinger-Ellison syndrome
A 45-year-old male presents with abdominal pain, diarrhea, and heartburn. Physical exam is unremarkable. On endoscopy he is found to have multiple gastric and duodenal ulcers. The patient is prescribed proton-pump inhibitors and treated for Helicobacter pylori, which relieves his symptoms temporarily. However, he has multiple recurrences of symptoms and ulcers.
Prolactinoma
A 45-year-old man presents with loss of libido and some erectile dysfunction. He is otherwise healthy. On physical examination he has mild bilateral gynecomastia and normal testes. Laboratory work-up reveals a highly elevated prolactin level of 2300 micrograms/L (46,000 mIU/L). Normal prolactin levels are up to 15 micrograms/L (300 mIU/L). He also has low testosterone, LH, and FSH levels. MRI exam of the pituitary sella depicts a large 32 mm pituitary macroadenoma with suprasellar extension and optic chiasmal compression. Visual field assessment reveals bitemporal hemianopia.
Zollinger-Ellison syndrome
A 45-year-old man with a personal and family history of nephrocalcinosis presents to his family medicine doctor with recurrent epigastric pain associated with bloating and diarrhea. He is started empirically on an oral proton-pump inhibitor and notes improvement in the frequency and quantity of diarrhea, although he continues to experience epigastric pain.
Hypothyroidism
A 45-year-old white woman presents with symptoms of fatigue, depression, and mild weight gain. Physical exam demonstrates heart rate of 58 beats per minute, coarse dry skin, and bilateral eyelid edema. Serum thyroid-stimulating hormone (TSH) is 40 mIU/L (normal range, subject to laboratory standards, 0.35 to 6.20 mIU/L), and free T4 is 0.5 nanograms/dL (usual normal range, subject to laboratory standards, is 0.8 to 1.8 nanograms/dL). Therapy is begun with levothyroxine 100 micrograms daily and the patient's symptoms improve. Repeat testing 6 weeks later reveals a normal TSH (5 mIU/L). The patient is maintained on this dose and repeat TSH testing is planned yearly or if symptoms recur.
obesity
A 45-year-old woman presents for evaluation of her obesity. She has been obese all of her life and has tried multiple weight-loss programs without success. In the last 6 months, she has undergone a physician-supervised diet and exercise with minimal change in her weight. She weighs 120 kg and stands 5 feet 5 inches tall (165 cm). Her comorbidities include hypertension, diabetes, obstructive sleep apnea, and GERD.
psychogenic polydipsia
A 46-year-old black man with chronic paranoid schizophrenia is admitted to the acute psychiatric unit for crisis stabilization. During the course of his admission to the hospital, he is noted to continually ask staff for water and ice, stating, "I need to flush out the demons." Subsequently, he is found in his room drinking water out of the bathtub faucet.
ACEI
A 47-year-old man diagnosed with type 2 diabetes mellitus four months ago, comes to the office for follow-up visit and recheck of his blood pressure. He was started on metformin therapy, and given dietary counseling at his initial visit. Fasting blood glucose measurement obtained at today's visit is 98 mg/dL. Random spot urine albumin/creatinine ratios obtained at his initial visit, and again today, shows a value of 100 µg/mg. Temperature is 37°C (98.6°F), pulse rate is 82/min, respirations are 16/min, blood pressure is 142/92 mmHg, and BMI is 31. Addition of which of the following classes of medications to this patient's regimen is the most appropriate next step in management?
acromegaly
A 47-year-old man presents with arthritic pain of knees and hips, soft-tissue swelling, and excessive sweating. He also noticed progressive enlargement of the hands and feet. He has been taking antihypertensive medication for the past 3 years. On physical examination, he has coarse facial features with prognathism and prominent supraorbital ridges. The tongue is enlarged and the fingers are thickened. His wife complains that he frequently snores. Laboratory workup reveals an elevated plasma insulin-like growth factor 1 (IGF-1) concentration of 560 micrograms/L (normal for age, 120-235 micrograms/L) and a basal plasma growth hormone level of 15 micrograms/L. MRI examination of the sella turcica region shows a 14 mm pituitary mass with right cavernous sinus invasion.
dysfunctional uterine bleeding (DUB)
A 47-year-old woman presents to her gynecologist with a history of persistent vaginal bleeding for the past 2 weeks. Over the last year, her periods have been longer and irregular. She is sexually active and denies any exogenous hormone use. Her partner had a vasectomy 5 years ago. Her examination is unremarkable except for mild uterine bleeding. Pregnancy is excluded.
Hypothyroidism
A 47-year-old woman presents to the office with increased blood pressure, bradycardia, constipation, muscle cramps and weight gain. These are signs and symptoms of what condition?
TSH and free T4
A 47-year-old woman presents to the office with increased blood pressure, bradycardia, constipation, muscle cramps and weight gain. What is the best initial lab workup for this patient?
adrenal suppression
A 55-year-old man is seen urgently at the clinic for weakness, nausea, and vomiting. He has a history of chronic obstructive pulmonary disease, with previous admissions to the hospital for exacerbations necessitating systemic glucocorticoids, including twice in the past month alone. During these admissions, he recalls receiving intravenous glucocorticoids that are later switched to an oral formulation. He was last discharged 3 weeks ago, but his take-home oral glucocorticoid doses were higher and the tapering schedule longer than usual for him. He felt his breathing had improved but that he was gaining weight, so he stopped taking the pills 1 week ago. On exam, his BP is 86/58 mmHg, pulse rate is 103 beats/minute, and he has moon facies.
metabolic syndrome
A 55-year-old man presents with elevated aminotransferases on laboratory investigation. He also has episodes of sleep apnea. He smokes about 20 cigarettes a day and his father had an MI at the age of 52 years. Physical exam reveals hypertension (BP 152/90 mmHg) and abdominal obesity (waist circumference 43 inches [110 cm]). He has an impaired fasting glucose (113 mg/dL), and the lipid profile shows high triglycerides (240 mg/dL), high total cholesterol (213 mg/dL) and LDL-cholesterol (130 mg/dL) levels, and low HDL-cholesterol (35 mg/dL) levels.
schedule a follow up in 3 months
A 55-year-old man was diagnosed with type 2 diabetes mellitus three weeks ago, and was started on metformin therapy. He returns to the office today to review laboratory analysis of blood obtained during the preceding week. The results are: sodium - 136 mEq/L, potassium - 4.2 mEq/L, chloride - 101 mEq/L, bicarbonate - 22 mEq/L, glucose - 105 mg/dL, and hemoglobin A1c - 7.0%. Which of the following is the most appropriate next step in management?
Hypertriglyceridemia
A 56-year-old obese man with poorly controlled type 2 diabetes mellitus presents with symptoms of nausea, vomiting, and worsening abdominal pain after a dinner of steak, French fries, and wine. On examination he has diffuse abdominal tenderness, which is most marked in the left upper quadrant. Eruptive xanthomas are noted on his back and forearms. His triglyceride level is 2500 mg/dL and his blood glucose is 364 mg/dL. Serum lipase levels are elevated and abdominal ultrasound shows evidence of pancreatitis.
gynecomastia
A 58-year-old man presents for follow-up after hypertension was noted at a health fair. He is taking an ACE inhibitor. Heartburn is controlled by over-the-counter ranitidine. He has some difficulty achieving an erection. Body mass index is 31 kg/m². Body habitus and body hair distribution are normal except for central obesity. He has 3 cm of firm breast tissue under each nipple without axillary adenopathy. Testes are slightly soft, and testicular volume is normal at 20 cm³
Paget's disease
A 60-year-old man comes to the office for evaluation because of right-sided head pain, and an increase in his hat size over the past six months. He describes the pain as dull and constant. He has also noticed a decrease in his hearing on the right side. Physical examination shows an area of palpable deformity and tenderness over the right parietal and temporal areas of the head, with overlying warmth of the skin. Results of laboratory tests show an elevation in alkaline phosphatase level. X-ray study of the skull shows widening between the inner and outer tables of the temporo-parietal skull, along with mixed lytic and sclerotic appearing lesions. Which of the following is the most likely diagnosis?
Hypertriglyceridemia
A 63-year-old woman with diabetes presents with an episode of retrosternal chest pain and diaphoresis that occurred while walking up stairs earlier that day. Her examination is unremarkable except for blood pressure 156/96 mmHg and abdominal obesity. A recent lipid profile showed triglycerides 335 mg/dL, total cholesterol 243 mg/dL, low-density lipoprotein cholesterol 142 mg/dL, and high-density lipoprotein cholesterol 34 mg/dL. Her electrocardiogram shows no acute changes.
congenital adrenal hyperplasia
A 7-day-old newborn boy is brought into the hospital with vomiting and poor feeding. The infant is dehydrated and tachycardic. Electrolytes reveal hyponatremia and hyperkalemia. The patient demonstrates signs of shock. On genital exam, a phallic structure is noted with hyperpigmentation of the scrotum, but no testes are palpated.
Osteoporosis
A 70-year-old man, 6 months after renal transplantation and on corticosteroid treatment, presents with severe back pain. X-ray evaluation of the thoracic and lumbar spine discloses evidence of multiple vertebral compression fractures.
Osteoporosis
A 70-year-old woman presents to the emergency department after falling while getting out of bed. She sustained an intertrochanteric fracture of the right hip. Preoperative chest x-ray evaluation before repair of the hip reveals that she had existing asymptomatic vertebral fractures before her fall.
Hyperglycemic Hyperosmolar State (HHS)
A 72-year-old man is brought to the emergency department from a nursing home for progressive lethargy. The patient has a history of hypertension complicated by a stroke 3 years previously. This has impaired his speech and rendered him wheelchair bound. He also has a schizothymic disorder for which he was started recently on clozapine. On presentation, he is disoriented to time and place and febrile with a temperature of 101°F (38.3°C). Vital signs include a BP of 106/67 mmHg, heart rate of 106 beats per minute, and a respiratory rate of 32 breaths per minute. Initial laboratory workup reveals a serum glucose of 950 mg/dL, a serum sodium of 127 mEq/L, BUN of 59 mg/dL, and a serum creatinine of 2.3 mg/dL. Serum osmolality is calculated as 338 mOsm/kg. Urinalysis reveals numerous white blood cells and bacteria. Urine is positive for nitrates but negative for ketones. Serum is negative for beta-hydroxybutyrate.
osteomalacia
A 72-year-old man is evaluated for increasing fatigue and bone pain. His medical history is significant for chronic alcoholism, lactose intolerance, and a vertebral compression fracture 1 year ago. He is housebound without any sunlight exposure. He denies any personal or family history of kidney stones, fractures, or osteoporosis. His physical exam is remarkable for generalized tenderness of the long bones and proximal muscle weakness, with difficulty climbing stairs and a waddling gait.
diabetes insipidus
A 75-year-old woman presents to her family physician with a 6-month history of progressive fatigue and malaise with polyuria, polydipsia, and nocturia. She has a longstanding history of bipolar affective disorder, and has been receiving lithium for the past 15 years.
Syndrome of Inappropriate Antidiuretic Hormone (SIADH)
A 76-year-old homeless white man presents to the emergency department after police find him disoriented on the streets in late August. The patient gives little history, but admits to ongoing cough with productive sputum, night sweats/chills, and mild dyspnea. He proceeds to suffer from a seizure. Vital signs demonstrate an elevated temperature at 101.7°F (38.7°C), a respiration rate of 26 breaths per minute, 94% oxygen saturation (on 3 L of O2), and pulse 87 bpm, with no evidence of orthostatic hypotension. Physical exam demonstrates a malnourished and disheveled man in a postictal state. There is no sign of injury to the body. Crackles can be heard at the right lung base. Lab work demonstrates serum sodium of 120 mEq/L, serum creatinine of 1.0 mg/dL, and negative alcohol and toxicology screens. CXR demonstrates a large infiltrate in the right lower lung, consistent with pulmonary infection or abscess.
Male infertility
A couple presents to a fertility clinic as they were unable to achieve pregnancy after 1 year of unprotected intercourse. The woman is 28 years old with regular and normal menses. A hysterosalpingogram shows normal uterine contour and patent tubes bilaterally. The male partner is 29 years old with negative medical history. Examination is unremarkable, with normal testicular volume and secondary sexual characteristics. Two semen analyses separated by 1 month show low sperm concentration (15 million/mL), decreased sperm motility (20%), and increased percentages of sperm with abnormal morphology.
Phenylketonuria
A full-term, female infant presents at 7 days of age with a positive newborn screening test for PKU. The history is unremarkable and physical exam reveals no abnormal findings. Plasma amino acid analysis shows a phenylalanine level of 20 mg/dL (normal levels are 1-2 mg/dL), with all other amino acids within normal ranges. Urine neopterin to biopterin ratio and blood dihydropteridine reductase activity are normal, ruling out a defect in tetrahydrobiopterin (BH4) synthesis or recycling.
Paget's disease
A late middle-aged woman presents with chronic right hip and anterior thigh pain, with increased localized temperature. Lately, she has needed a cane for walking. During the past 6 months her relatives have noticed a progressive hearing loss on her left side, as well as some facial changes - mostly enlargement of her mandible.
DiGeorge Syndrome
A newborn girl presents with cyanosis after an unremarkable pregnancy and delivery. A hyperoxia test suggests congenital heart disease, and an echocardiogram confirms tetralogy of Fallot. The infant subsequently has a seizure, and serum calcium is 5.8 mg/dL. Intact PTH level is low. T-cell enumeration by flow cytometry reveals a CD3+ cell count of 780 cells/mm^3. At age 4, she begins schooling but has difficulty performing up to the level of her peers. She has hypernasal speech that is sometimes difficult to understand. Nevertheless, she completes her schooling and is able to work productively.
Multiple Endocrine Neoplasia (MEN)
An 18-year-old man with no medical history presents with a lump on his neck that he noticed while shaving. A 2-cm thyroid nodule is palpable. There is nothing else of note on examination.
polycystic ovary syndrome (PCOS)
An 18-year-old woman presents with a chief complaint of hirsutism. She needs to wax her upper lip and chin twice a week. This has been a problem for 4 years. She also has excess hairs on her upper back and lower abdomen. Her periods are irregular, occurring every 2 to 3 months. Embarrassment about the facial hirsutism has affected her social life, and she is finding she feels depressed much of the time.
anabolic steroid use disorder
An otherwise healthy, 32-year-old woman seeks help for amenorrhea. Although she does not want children now, she plans to conceive in a few years. She seems athletic and fit, with a well-developed torso and upper extremity musculature. She is hirsute and has a deep, almost masculine voice. Laboratory tests indicate highly elevated triglycerides, LDL, and total cholesterol.
type 2 diabetes
An overweight 55-year-old woman presents for preventive care. She notes that her mother died of diabetes, but reports no polyuria, polydipsia, or weight loss. BP is 144/92 mmHg, fasting blood sugar 148 mg/dL, HbA1c 8.1%, LDL-cholesterol 200 mg/dL, HDL-cholesterol 30 mg/dL, and triglycerides 252 mg/dL.
Toxic multinodular goiter
At a routine checkup, a 70-year-old woman has an irregularly irregular pulse of 88 bpm and BP of 150/60 mmHg. Neck examination reveals an enlarged thyroid (approximately 30 g) with irregular, bumpy texture. There is no substernal extension, lymphadenopathy, or bruit. The remainder of the examination is unremarkable except for a I-II/VI systolic murmur at the left sternal border and minimal tremor of the outstretched hands. The patient denies heat intolerance or nervousness, but says she has lost a few pounds over the past year. There is no history of head and neck irradiation.
growth hormone deficiency
Parents of a 5-year-old boy have been increasingly worried about his height for the past 18 months. His height is well below the 0.4th centile (98 cm). His weight is on the 9th centile and midparental height is on the 50th centile. He has a small face with frontal bossing and a lot of fat around his belly. His height at 4.2 years was 95 cm and at 3.6 years was 93 cm, giving him a growth velocity that is suboptimal at 5 cm over 1.6 years. His 2 brothers are both of an "average height."
