Which of the following is an FDA-approved indication for recombinant growth hormone therapy in children?
A 5-year-old girl is diagnosed with a rare disorder causing severe, early-onset hypertension and hypokalemia. Her plasma renin and aldosterone levels are both profoundly suppressed. A urine steroid profile shows a markedly decreased ratio of tetrahydrocortisol to tetrahydrocortisone metabolites. What is the most likely mechanism of her hypertension?
A 7-year-old male with a history of a suprasellar germinoma was treated with surgery and high-dose radiation. He now presents with poor growth and fatigue. You suspect acquired hypopituitarism. Which of the following findings is more frequently observed in acquired forms of hypopituitarism (e.g., from tumors or radiation) compared to congenital forms?
A term newborn of an otherwise healthy mother is noted at day 5 of life to have prolonged unconjugated hyperbilirubinemia, poor feeding, and lethargy. Examination reveals macroglossia, a large posterior fontanelle, umbilical hernia, hypotonia, and mottled, cool skin. The newborn screen, drawn at 18 hours of life using a primary TSH strategy, was reported as normal. Repeat serum testing at day 5 shows a low free T4 with a markedly elevated TSH. What is the most likely diagnosis?
A 16-year-old male being treated for malignancy with an immune checkpoint inhibitor presents with polyuria, polydipsia, and significant weight loss. Laboratory workup reveals a blood glucose of 450 mg/dL, a pH of 7.20, and positive serum ketones. What is the most likely underlying pathophysiology and required treatment for his diabetes?
A 5-year-old male presents with new-onset seizures. He has a history of sensorineural deafness diagnosed at age 2. Laboratory evaluation reveals hypocalcemia, hyperphosphatemia, and a low parathyroid hormone level. A renal ultrasound shows dysplastic kidneys. Which gene is most likely implicated in this patient’s condition?
A 16-year-old is evaluated for primary amenorrhea and is found to have a 46,XY karyotype, a female phenotype with well-developed breasts, absent axillary and pubic hair, and intraabdominal testes. The diagnosis is complete androgen insensitivity syndrome. What is the primary pathophysiologic mechanism responsible for the development of breasts in this individual?
A 14-year-old female is diagnosed with a pheochromocytoma after presenting with paroxysmal headaches, palpitations, and sustained hypertension. Imaging confirms a single 4 cm right adrenal mass. To prepare her for surgical resection, what is the most critical initial pharmacologic intervention?
An 8-month-old male is diagnosed with Multiple Endocrine Neoplasia Type 2B (MEN2B) after genetic testing confirms an M918T pathogenic variant in the RET proto-oncogene. He has a Marfan-like habitus and mucosal neuromas. His serum calcitonin level is normal. What is the most appropriate management regarding his thyroid?
A 2-year-old boy is diagnosed with primary adrenal insufficiency. Genetic testing reveals a pathogenic variant in the NR0B1 (DAX1) gene on the X chromosome. In addition to lifelong glucocorticoid and mineralocorticoid replacement, for which other long-term endocrine dysfunction should this patient be monitored?