ENDOCRINE

Question . 1. A previously healthy 10-mo-old female infant is found unresponsive in her crib. In the emergency department, she is noted to be well developed and well nourished with normal blood pressure and appearance of the genitalia but with increased pigmentation of her skin. Blood glucose level is 30 mg/dL. The most likely diagnosis is: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Familial glucocorticoid deficiency Explanation: Glucocorticord deficiency results in increased pituitary production of ACTH, which has melanocyte-like stimulatory hormone properties. The combination of normal blood pressure and normal-appearing genitalia in a female patient helps exclude adrenal hyperplasias, which would present much earlier in life (usually in the first month). This familial autosomal recessive disorder does not have salt wasting as a feature and is due in some patients to defects in the ACTH receptor. (See Chapter 569 in Nelson Textbook of Pediatrics, 17th ed.) Cushing syndrome Hyperinsulinemia Congenital adrenal hyperplasia due to 11-hydroxylase deficiency Question . 2. A 4-wk-old female infant is presented to the emergency department with hyponatremia and hyperkalemia. Other than the cardiovascular abnormalities and dehydration, the physical findings are normal. The most informative laboratory examination would be: 17-Hydroxyprogesterone Renin Aldosterone Explanation: Aldosterone is most likely to be deficient in this child. This occurs as a rare autosomal recessive disorder. If she had virilization, one would also consider congenital adrenal hyperplasia. In that case, 17-hyroxyprogesterone assay is the most important diagnostic test. (See Chapter 569 in Nelson Textbook of Pediatrics, 17th ed.) Cortisol DAX-1

Question . 3. An 11-yr-old boy is followed for chronic mucocutaneous candidiasis and hypoparathyroidism. His mother reports increasing fatigue, cutaneous pigmentation, and chronic abdominal pain. The most likely cause is: New-onset diabetes mellitus type 2 Hypothyroidism Hepatitis Adrenal insufficiency Explanation: Polyendocrine autoimmune-induced hypofunction is common in chronic cutaneous mucocutaneous candidiasis. Adrenal involvement is highly suggestive in this case. (See Chapter 569 in Nelson Textbook of Pediatrics, 17th ed.) Celiac disease Question . 4. A 10-yr-old boy is under medical management for adrenal insufficiency. His mother reports he has complained that he is not as good at playing sports as previously and has trouble reading. The first step in the care of this boy is to: Measure very long-chain fatty acids Explanation: This patient probably has a form of adrenal leukodystrophy, which is an X-linked peroxisomal disorder. In the absence of antiadrenal antibodies, this X-linked disorder may be responsible for about 50% of cases of adrenal insufficiency in males. (See Chapter 569 in Nelson Textbook of Pediatrics, 17th ed.) Measure thyroid hormone levels Increase his replacement dose of hydrocortisone Order an MRI study of his brain and pituitary Refer him to an ophthalmologist

Question . 5. A 6-yr-old girl underwent removal of a craniopharyngioma 3 mo previously. She is on a thyroid replacement regimen, but her mother reports she is very fatigued. The next step would be to: Increase the dose of her thyroid medication. Schedule a growth hormone stimulation test Measure ACTH and cortisol Explanation: If she already has one endocrine disorder following removal of a pituitary tumor, she is at high risk for another, and in this case adrenal function must be evaluated. If she has adrenal insufficiency from a pituitary hormone deficiency, hyperpigmentation will be absent because ACTH and cortisol levels will both be very low. (See Chapter 569 in Nelson Textbook of Pediatrics, 17th ed.) Obtain an MRI study of her head Measure IGF-1 and IGFBP-3 Question . 6. A 2-mo-old infant is presented with failure to thrive, recurrent emesis, hepatosplenomegaly, and adrenal insufficiency. Adrenal calcification is noted radiologically. The most likely diagnosis is: Adrenal hemorrhage Tuberculosis Neuroblastoma Pheochromocytoma Wolman disease Explanation: This is a classic presentation of this cholesterol storage disease. In the absence of these significant clinical findings, adrenal calcifications may be an incidental finding. But in this case, it is an important clue to the diagnosis. (See Chapter 75 in Nelson Textbook of Pediatrics, 17th ed.)

Question . 7. A 2-wk-old male infant is eating poorly, has repeated emesis, and has not regained his birth weight. On physical examination he appears dehydrated and is noted to have increased pigmentation of skin creases and genitalia. In addition to measuring serum electrolytes, assay of which of the following hormones would be most informative? 17-Hydroxyprogesterone Explanation: This is a classic presentation and timing for the presentation of a salt-losing congenital adrenal hyperplasia in a genotypic male. 17-Hydroxyprogesterone assay is the initial diagnostic test. Determination of electrolytes would reveal hyponatremia and hyperkalemia. The patient should be examined to confirm the presence of gonads in the scrotum. If there are not, this patient could be a virilized female with complete fusion of the labial-scrotal folds. (See Chapter 570 in Nelson Textbook of Pediatrics, 17th ed.) Cortisol 17-Hydroxypregnenolone Renin Aldosterone Question . 8. An 8-yr-old girl treated from infancy for adrenal insufficiency is noted to have inguinal gonads. Karyotype is 46,XY. The most likely diagnosis is: True hermaphroditism Testicular feminization DAX-1 mutation Lipoid adrenal hyperplasia Explanation: Adrenal insufficiency rules out testicular feminization and true hermaphrodism, which does not involve the adrenals. This is a classic example of lipoid adrenal hyperplasia. The gonads are probably testes, which will need to be removed in the future. (See Chapter 570 in Nelson Textbook of Pediatrics, 17th ed.) 17-Hydroxylase deficiency

Question . 9. A newborn infant is noted to have increased pigmentation of his skin and genitalia, perineal hypospadias with bifid scrotum, and a 2-cm phallus with chordee. Gonads are palpable in the inguinal canal, and no uterus is visualized on ultrasound examination. The most likely diagnosis is: Incomplete testicular feminization 21-Hydroxylase deficiency 3 -HSD deficiency Explanation: This incompletely virilized male (no uterus but partial male genitalia) probably has 3 -HSD deficiency. (See Chapter 570 in Nelson Textbook of Pediatrics, 17th ed.) Lipoid adrenal hyperplasia 11-Hydroxylase deficiency Question . 10. A 5-yr-old boy presents with pubic hair development. He is tall and has increased pigmentation of his genitalia and phallic enlargement. Blood pressure is 130/90 mm Hg. Measurement of which of the following hormones would be most likely to be diagnostic? Testosterone 17-Hydroxyprogesterone 11-Deoxycortisol Explanation: This male has a non-salt-losing form of congenital adrenal hyperplasia due to 11-hydroxylase deficiencies. The metabolic defect produces salt-retaining steroids (deoxycorticosteroids) and is thus associated with hypertension and usually presents later in life than is typical for salt-wasting forms of 21-hydroxylase deficiencies. (See Chapter 570 in Nelson Textbook of Pediatrics, 17th ed.) Aldosterone Deoxycorticosterone

Question . 11. A 2-yr-old boy presents with glandular breast development and pubic hair development. His testes are prepubertal. The most appropriate next step in his evaluation is: ACTH stimulation test LHRH stimulation test Ultrasound examination of his abdomen Explanation: These findings suggest increased androgen production (pubic hair) and androgen conversion to estrogen. An adrenal source is a strong possibility and must be excluded before other testing is planned. (See Chapter 556 in Nelson Textbook of Pediatrics, 17th ed.) MRI of brain and pituitary CT of brain and pituitary Question . 12. A 4-yr-old previously normal girl has developed acne and pubic hair. On physical examination she has clitoromegaly and mild increase in her blood pressure. Serum dehydroepiandrosterone sulfate is markedly elevated. The most likely diagnosis is: Malignant adrenal tumor Explanation: This is a dramatic presentation of endogenous androgen production, most likely of an adrenal origin as indicated by the elevation of the adrenal-derived hormone dehydroepiandrosterone sulfate. (See Chapter 556 in Nelson Textbook of Pediatrics, 17th ed.) CAH due to 11-hydroxylase deficiency CAH due to 21-hydroxylase deficiency Malignant ovarian tumor McCune-Albright syndrome

Question . 13. A 6-yr-old girl with extensive caf-au-lait lesions and polyostotic fibrous dysplasia is at risk for: Gonadotropin-independent precocious puberty Cushing syndrome Thyroid nodules Pituitary tumor All of the above Explanation: McCune-Albright syndrome is a polyendocrinopathy with excessive hormone production. Precocious puberty that is independent of central gonadotrophic hormones is classic. Additional features include fibrous dysplasia and cutaneous hyperpigmentation. (See Chapter 556 in Nelson Textbook of Pediatrics, 17th ed.) Question . 14. A 13-yr-old boy is undergoing evaluation for Cushing syndrome. His cortisol level is unchanged following dexamethasone 30 g/kg/day in 4 divided doses but decreases to 4 g/dL following 120 g/kg/day in 4 divided doses. The next step(s) in his evaluation should include: MRI of his head with and without contrast Explanation: It is very possible that the suppressibility from higher dose dexamethasone represents ACTH production from a central origin, which requires higher doses of dexamethasone to reduce cortisol levels. (See Chapter 571 in Nelson Textbook of Pediatrics, 17th ed.) Petrosal sinus sampling before and after CRH determination MRI of his abdomen Adrenal vein catheterization All of the above

Question . 15. Carney complex includes which of the following components? Large cell calcifying Sertoli cell tumors Cardiac myxomas Primary pigmented adrenocortical disease Autosomal dominant transmission All of the above Explanation: This autosomal dominant disorder is mapped to chromosome 2p16 and may be due to a gain-of-function mutation. The adrenal disorder is a pigmented nodular adrenocortical disease with associated features such as lentigines, blue nevi, cardiac and skin myxomas, and sexual precocity in boys with large cell calcifying Sertoli tumors and melanotic schwannomas. (See Chapter 571 in Nelson Textbook of Pediatrics, 17th ed.) Question . 16. A 10-yr-old girl has grown 4 cm and gained 7 kg in the past year. She is diffusely obese with violaceous striae on her trunk and extremities. Her 24-hour urinary free cortisol is increased. The next step in her evaluation is: MRI of her brain and pituitary MRI of her abdomen Measurement of morning cortisol A 2-step dexamethasone suppression test Explanation: This two-step test will help determine if ACTH is of central origin. This is a classic clinical picture of Cushing disease, which in children is most often due to a primary adrenal disorder. (See Chapter 571 in Nelson Textbook of Pediatrics, 17th ed.) An ACTH stimulation test

Question . 17. A 12-yr-old boy is hypertensive with suppressed plasma renin activity and elevated aldosterone. The next step in the evaluation is: Dexamethasone suppression test Explanation: Glucocorticoid-suppressible hypertension is a primary adrenal disorder that must be evaluated with the dexamethasone suppression test. (See Chapter 572 in Nelson Textbook of Pediatrics, 17th ed.) CT study of his abdomen Adrenal vein catheterization ACTH stimulation test Sodium loading test Question . 18. A 6-yr-old girl is hypertensive with hypokalemic alkalosis. Renin activity is suppressed. The ratio of tetrahydrocortisol to tetrahydrocortisone is increased in her urine. The most likely diagnosis is: Glucocorticoid-remediable hyperaldosteronism Apparent mineralocorticoid excess (11 -HSD deficiency) Explanation: The hypokalemic alkalosis in a hypertensive patient without abnormal genitalia or sexual precocity is highly suggestive of a primary disorder of mineralocorticoid excess. (See Chapter 572 in Nelson Textbook of Pediatrics, 17th ed.) Liddle syndrome Aldosterone-secreting adenoma Bilateral micronodular adrenocortical hyperplasia Question . 19. Glucocorticoid-remediable aldosterone is caused by: A mutation in the gene for 11-hydroxylation A mutation in the gene for 11 -HSD A mutation in the gene for 17-hydroxylation Formation of a hybrid gene between CYPI IB1 and CYPI IB2 Explanation: This unique mechanism explains the suppressibility of the hyperaldosteronism, with one gene regulating the other.

A mutation in the gene for the mineralocorticoid receptor Question . 20. A 10-yr-old girl has hyperaldosteronism that is unresponsive to dexamethasone. No adrenal tumor is visualized on CT. The next step is: Adrenal vein catheterization Explanation: Local production of aldosterone can be determined only by selective adrenal vein catheterization. A small tumor may not be seen on CT. (See Chapter 572 in Nelson Textbook of Pediatrics, 17th ed.) Metyrapone administration Spironolactone (Aldactone) administration Exploratory laparotomy Furosemide (Lasix) administration Question . 21. Pheochromocytomas may be associated with: Neurofibromatosis Von Hippel-Lindau disease MEN IIA and MEN IIB Tuberous sclerosis All of the above Explanation: Pheochromocytomas may be isolated tumors, but a good family history as well as physical examination may reveal associated syndromes. (See Chapter 574 in Nelson Textbook of Pediatrics, 17th ed.) Question . 22. Presenting manifestations of pheochromocytoma may include: Sustained hypertension Abdominal pain Polyuria and polydipsia Weight loss All of the above Explanation: In addition, we have seen some patients present with symptoms initiated only during exercise. (See Chapter 574 in Nelson Textbook of Pediatrics, 17th ed.)

Question . 23. An 11-yr-old boy complains of increasing headaches and recent visual changes affecting his lateral fields of vision. MRI of the brain reveals a midline mass measuring 2 cm in diameter in the region of the anterior pituitary gland. He undergoes transsphenoidal resection of the mass and is transferred to the pediatric intensive care unit for postoperative care. Six hours later he is noted to have a brisk urine output of 4-6 mL/kg/hr. Vital signs are stable: heart rate 120/min, blood pressure 120/75 mm Hg. He appears well hydrated. His serum osmolality is 310 mOsm/kg and urine osmolality is 100 mOsm/kg. Which of the following is the most likely diagnosis? SIADH Cerebral salt wasting Normal postoperative diuresis Central diabetes insipidus Explanation: Interference with the transport or production of hypothalamically synthesized arginine vasopression may be a temporary or permanent defect following surgery in this area of the brain. (See Chapter 553 in Nelson Textbook of Pediatrics, 17th ed.) Nephrogenic diabetes insipidus Question . 24. A 10-yr-old boy receiving vincristine for treatment of a malignancy has developed the syndrome of inappropriate antidiuretic hormone secretion (SIADH), a known complication of this therapy. All of the following parameters would be decreased in this patient except: Urine production rate Serum osmolality Intravascular volume Explanation: The pathophysiologic mechanism is excessive free water retention and dilutional hyponatremia. Other causes of dilutional hyponatremia such as heart failure or cirrhosis are characterized by a reduction in effective renal blood flow. This is not a problem in SIADH. (See Chapter 553 in Nelson Textbook of Pediatrics, 17th ed.) Uric acid Serum sodium

Question . 25. A 14-yr-old boy with bipolar disorder is seen for a health maintenance visit. During the review of systems questioning, you note increased thirst and frequency of urination. Current medications include risperidone (Risperdal) and lithium. A random serum sodium is reported to be 148 mmol/L. The most likely diagnosis in this patient is: SIADH Primary polydipsia Adrenal insufficiency Central diabetes insipidus Nephrogenic diabetes insipidus Explanation: Nephrogenic diabetes insipidus may be congenital or acquired. In the acquired form, drugs (lithium) and electrolyte disturbances (hypokalemia, hypercalcemia) are common etiologic factors. (See Chapter 553 in Nelson Textbook of Pediatrics, 17th ed.) Question . 26. A 5-yr-old girl with a 6-mo history of excessive urination and thirst is seen for an evaluation. She has no history of trauma, recent illness, or medication use. Physical examination demonstrates a well-appearing child with normal vital signs, stable weight, and normal findings on the neurologic examination.You suspect diabetes insipidus.The most appropriate next step in the management of this patient is: Serum and urine electrolytes MRI scan of the brain Renal ultrasound study Quantification of daily fluid input and output Explanation: This is essential to confirm the history but should not be done alone if there are signs of hypovolemia that need immediate treatment. If the history is suggestive of diabetes insipidus, a water deprivation test is performed, followed by parenteral administration of arginine vasopressin (DDAVP) if the deprivation test does not demonstrate effective urine-concentrating ability. A response to DDAVP suggests a central origin for the DI. (See Chapter 552 in Nelson Textbook of Pediatrics, 17th ed.) Water deprivation test

Question . 27. A 1-mo-old child is brought to the emergency department during a heat wave after she has had a generalized seizure. A CT scan of the brain is reportedly normal. The family notes having recently diluted the child's formula to provide additional water. The most likely explanation for this child's seizures is: Hyperthermia Child abuse Hypernatremia Hyponatremia Explanation: Excessive free water intake in children younger than 6 mo can produce hyponatremia, which may manifest with seizures, lethargy, and hypothermia. The hyponatremia often corrects spontaneously, but if symptoms are present when the hyponatremia is reported, hypertonic (3%) saline may be used. (See Chapter 553 in Nelson Textbook of Pediatrics, 17th ed.) Febrile seizure Question . 28. All of the following are important in the evaluation of tall patients except: Family history IGF-1 Serum homocystine Chromosomal analysis Long-chain fatty acids Explanation: Tall stature may be familial or due to pituitary, chromosomal (XYY, XXY), or metabolic (Marfan syndrome, homocysteinuria) disorders, obesity, or hyperthyroidism. (See Chapter 556 in Nelson Textbook of Pediatrics, ed.)

Question . 29. A 3.5-kg male infant has a seizure at 7 days of age. The seizure is generalized and lasts approximately 8 minutes. Measurement of serum calcium in the emergency department reveals a level of 6.4 mg/dL. On examination, the infant appears well but has a grade III/VI systolic murmur. The most appropriate next step in diagnosis is: EEG Measurement of intact PTH after the serum calcium is corrected Measurement of intact PTH while the calcium is low followed by a fluorescence in situ hybridization (FISH) assay for DiGeorge syndrome Explanation: This child has hypoparathyroidism and congenital heart disease, a combination of manifestations highly suggestive of DiGeorge/velocardiofacial syndrome. This is caused by a deletion of chromosome 22q11-12, which is readily detected with FISH techniques. (See Chapter 565 in Nelson Textbook of Pediatrics, 17th ed.) Measurement of serum phosphorus level Question . 30. A 12-yr-old Hispanic boy with a history of a seizure disorder presents to his pediatrician with a complaint of leg cramps. He is of normal stature. His physical examination is unremarkable except for a Chvostek sign. His serum calcium is 6.1 mg/dL with a serum phosphorus level of 9.4 mg/dL. Serum level of intact PTH is 312 pg/mL (normal 10-60 pg/mL). The most likely diagnosis is: Primary hyperparathyroidism Pseudohypoparathyroidism type 1B Explanation: Pseudohypoparathyroidism (elevated PTH, low calcium) of this type is not associated with phenotypic morphologic features. In contrast, patients with type 1A have brachydactyly, cataracts, mild mental retardation, and calcification of basal ganglia. (See Chapter 566 in Nelson Textbook of Pediatrics, 17th ed.) Pseudohypoparathyroidism type 1A A calcium-sensing receptor-activating mutation

Question . 31. A 14-yr-old boy has unilateral gynecomastia and is Tanner stage 3 in pubertal development. He complains of occasional episodes of breast tenderness, which last less than 30 minutes and occur once a month. His serum estradiol and prolactin levels are normal. The most appropriate next step in the treatment of this patient is: Reassurance and explaining the transient nature of the breast findings Explanation: The problem described in the question is transient and compatible with the physiology of puberty in normal males. Indeed, as many as 60% of boys have some degree of pubertal gynecomastia. Some cases are familial. (See Chapter 556 in Nelson Textbook of Pediatrics, 17th ed.) Mammography Abdominal CT including the pelvis Head CT focusing on the pituitary Karyotype Question . 32. A 12-yr-old girl experiences muscle cramps and tingling of her hands and feet unrelated to exertion. When she grabs a door handle to open the door, she is unable to release her grasp because her hand is in spasm. The most important laboratory test is: Serum glucose determination Serum calcium determination Explanation: For the patient described, the serum total calcium is 6.0 mg/dL, the phosphorus level is 8.5 mg/dL, and the albumin is normal. (See Chapter 565 in Nelson Textbook of Pediatrics, 17th ed.) Electromyography (EMG) Nerve conduction velocity testing Arterial blood gas determination

Question . 33. Physical findings in Graves disease include all of the following except: Motor hyperactivity Cold intolerance Explanation: Patients with hyperthyroidism have heat intolerance because of their hypermetabolism. Tremor Weight loss Tachycardia Smooth, flushed, warm skin Question . 34. A mother and her 14-yr-old daughter come to you because the girl has not begun to menstruate. Her medical history and findings on the complete physical examination are normal. Breast development and pubic hair have been present for 18 months and are normal. Which of the following would be the most appropriate next step in the management of this patient? Reassurance that she probably will begin menstruating within the year Explanation: Reassurance about lack of menarche is appropriate at age 14. Workup should begiin after age 16. Laboratory evaluation for systemic disease Urinary estriol determination Buccal smear Referral for psychologic counseling Question . 35. Conditions associated with growth hormone deficiency include all of the following except: Cleft palate Midfacial anomalies Solitary maxillary central incisor Optic nerve hypoplasia VATER syndrome

Explanation: Facial anomalies, especially if short stature is present, suggest pituitary and thus growth hormone deficiency. Question . 36. Children with growth hormone deficiency are best characterized by all of the following except: Low birthweight Explanation: Most children with isolated GH deficiency are of normal length and weight at birth. Those with multiple pituitary hormone deficiencies may demonstrate a shorter length. By age 1 yr, the children appear short but are not thin or wasted, as occurs in severe caloric deprivation. Delayed epiphyseal closure Short stature by 1 yr of age Round-shaped head Hypoglycemia Small hands and feet Question . 37. Sotos syndrome is characterized by all of the following except: Macrocrania Large size at birth Tall stature Clumsiness Normal intelligence Explanation: Most patients have some degree of mental retardation. Perceptual deficits are also common. Question . 38. A 6-yr-old girl presents with breast enlargement and pubic hair development. Otherwise, she is asymptomatic. Her serum LH level is elevated. The most likely diagnosis is: Hypothyroidism Exposure to exogenous estrogen An estrogen-secreting tumor An adrenal tumor Central precocious puberty

Explanation: Central precocious puberty involves idiopathic release of LH and a normal, albeit early, progression of puberty. (See Chapter 556 in Nelson Textbook of Pediatrics, 17th ed.) Question . 39. The most appropriate next step in the evaluation of the child in Question 38 is: Serum prolactin level determination Head MRI Explanation: C or B. In the absence of neurologic or visual signs, a pituitary or hypothalamic lesion is highly unlikely. In girls, the risk of such a lesion is low; in boys, the risk of identifying a CNS lesion is 25-75%. In addition, the lesions are seldom malignant and rarely require neurosurgical intervention. (See Chapter 556 in Nelson Textbook of Pediatrics, 17th ed.) No further testing Explanation: C or B. In the absence of neurologic or visual signs, a pituitary or hypothalamic lesion is highly unlikely. In girls, the risk of such a lesion is low; in boys, the risk of identifying a CNS lesion is 25-75%. In addition, the lesions are seldom malignant and rarely require neurosurgical intervention. (See Chapter 556 in Nelson Textbook of Pediatrics, 17th ed.) Serum testosterone test Adrenal ultrasound study Question . 40. Optimal treatment for the girl described in Questions 38 and 39 is: Leuprolide Explanation: Long-acting GnRH analogs in depot form help prevent gonadotropic cell release of their hormones, thus abating the early onset of puberty. (See Chapter 556 in Nelson Textbook of Pediatrics, 17th ed.) Growth hormone Progesterone Prednisone Cranial irradiation

Question . 41. All of the following are characteristics of congenital hypothyroidism except: Higher incidence in females Incidence of 1:4,000 Lower incidence in African-Americans Central role of thyroid peroxidase antibodies Explanation: These autoantibodies have a minor role, if any, in the etiology of this disorder. However, thyroid gland growth blocking and cytotoxic antibodies may have a role in the etiology of congenital hypothyroidism. (See Chapter 559 in Nelson Textbook of Pediatrics, 17th ed.) Absence of symptoms at birth Question . 42. A 6-wk-old infant has gained no weight since birth. Her skin appears mottled, and an indirect bilirubin level is measured at 24 mg/dL. Her extremities are cold, and her temperature is 35oC. The most likely diagnosis is: Kernicterus Sepsis Galactosemia Hypothermia Hypothyroidism Explanation: Congenital hypothyroidism may also demonstrate large fontanels, feeding intolerance, distended abdomen, constipation, prolonged sleep, and a poor cry. (See Chapter 556 in Nelson Textbook of Pediatrics, 17th ed.)

Question . 43. The evaluation of the child described in Question 42 is best accomplished by: Serum TSH determination Serum T4 assay Explanation: The serum T4 is markedly depressed. Most cases of congenital hypothyroidism are due to dysgenesis of the thyroid gland, and therefore the TSH is elevated and a thyroid scan shows no uptake or ectopic tissue. Nonetheless, the serum T4 is the best of these tests. Central hypothalamic pituitary causes have a low TSH. Therapy with T4 should be initiated immediately. Fortunately, state screening for congenital hypothyroidism has prevented this type of late presentation with the inherent risks of mental retardation. (See Chapter 559 in Nelson Textbook of Pediatrics, 17th ed.) Bone age determination Head CT Thyroid scan Question . 44. A 14-yr-old girl presents with poor growth and delayed puberty. She denies headaches or poor school performance. She is physically sluggish and has a small goiter, and her serum cholesterol is 500 mg/dL. The most likely diagnosis is: Hashimoto disease Explanation: Hypothyroidism that is acquired is insidious in onset and primarily affects growth. Schoolwork is not as severely affected, as one would expect. (See Chapter 559 in Nelson Textbook of Pediatrics, 17th ed.) Graves disease Congenital hypothyroidism Familial type II hyperlipidemia Pituitary prolactinoma

Question . 45. Common features of Graves disease include all of the following except: A 5:1 male:female ratio Explanation: The female:male sex ratio is actually 5:1. A 6-mo to 1-yr delay in diagnosis Emotional disturbances Poor school work Tremors Voracious appetite Exophthalmos Question . 46. Type 1 diabetes mellitus is most often associated with: Mumps infection Coxsackievirus infection Antibodies to glutamic acid dehydrogenase Explanation: Anti-GAD antibodies, also known as anti-islet antibodies, are present in at least 90% of children with insulin-dependent diabetes. Cow's milk Mitochondrial DNA deletions Question . 47. Hyperglycemia during diabetic ketoacidosis may be associated with: Hypocalcemia Hypernatremia Hyponatremia Explanation: Hyponatremia may be due to measurement artifacts of serum glucose levels. Failure of the serum sodium level to rise during therapy places the patient at risk for cerebral edema, as the serum osmolarity drops below that in the brain, resulting in shift of fluid to the CNS.

Hypomagnesemia Hypocholesterolemia Question . 48. Hyperkalemia in severe diabetic ketoacidosis is due to: Renal failure Hemolysis Hyperglycemia Artifact Acidosis Explanation: Transcellular shifts of hydrogen into the cell with potassium leaving the cell during acidosis produce transient hyperkalemia, which is usually reversed with improvement in metabolism by insulin and improved tissue perfusion from isotonic fluids. Hypokalemia may develop during therapy with insulin; placing potassium salts in the intravenous solution given to the patient may reduce this risk. (See Chapter 583 in Nelson Textbook of Pediatrics, 17th ed.)