A newborn female is found to have ambiguous genitalia with clitoromegaly and partial labial fusion. At 3 weeks of age, she develops severe hypertension. Laboratory evaluation reveals suppressed plasma renin activity, hypokalemia, and markedly elevated levels of 11-deoxycortisol and deoxycorticosterone. What is the most likely underlying enzymatic defect?
A 12-year-old girl with a confirmed diagnosis of Turner syndrome has been receiving growth hormone therapy with a good response. Her pediatric endocrinologist is now planning to initiate pubertal induction. Which approach to estrogen replacement therapy is most appropriate to balance final height potential with age-appropriate psychosocial development?
A 15-year-old with type 1 diabetes mellitus develops a fever of 38.9°C (102°F) and anorexia. His blood glucose is 280 mg/dL, and urine ketones are moderate. According to standard sick day guidelines, what is the most appropriate initial action?
A 14-year-old male presents with a dramatic acceleration in his growth rate over the past 18 months, accompanied by headaches and coarsening facial features. His insulin-like growth factor 1 (IGF-1) level is markedly elevated. An oral glucose tolerance test fails to suppress his growth hormone (GH) level to less than 5 ng/mL, and an MRI confirms a pituitary macroadenoma. Which pathogenic variant is most commonly identified in pediatric patients with pituitary gigantism?
A 17-year-old male is evaluated for absent pubertal development and a complete lack of smell since childhood. His father and paternal uncle had a similar history of delayed puberty. This presentation is consistent with Kallmann syndrome. A pathogenic variant in which of the following genes is associated with an autosomal dominant inheritance pattern and an increased risk of cleft lip and palate?
An 11-year-old girl is brought to the clinic for progressive fatigue, muscle weakness, and a 3 kg weight loss over the past year. Her parents note she has had several episodes of vomiting, especially during minor illnesses, and seems to “crave” salty snacks. On examination, she has orthostatic hypotension and bronze-colored hyperpigmentation in her palmar creases and buccal mucosa. Which set of laboratory findings is most consistent with this presentation?
A neonate is born with ambiguous genitalia, craniosynostosis, midface hypoplasia, and humeroradial synostosis. The mother reports developing acne and hirsutism during the second half of the pregnancy. Laboratory evaluation of the infant reveals elevated pregnenolone and progesterone, with evidence of both partial 17-hydroxylase and 21-hydroxylase deficiency. Pathogenic variants in which gene are responsible for this syndrome?
A 15-year-old male with a known history of salt-losing congenital adrenal hyperplasia has been poorly compliant with his glucocorticoid and mineralocorticoid replacement therapy. He presents for his clinic visit with bilateral, firm testicular enlargement. His serum testosterone level is appropriate for his pubertal stage, but his adrenocorticotropic hormone (ACTH) level is markedly elevated. What is the most likely etiology of his testicular masses?
A 9-year-old girl presents with a 2-year history of progressive central obesity, growth deceleration, and facial plethora. A 24-hour urine free cortisol is elevated. To differentiate the cause of her Cushing syndrome, a high-dose dexamethasone suppression test is performed, which successfully suppresses her serum cortisol levels. What is the most likely diagnosis?
A 12-year-old male with cystic fibrosis has demonstrated poor weight gain over the past year despite optimized pancreatic enzyme replacement and nutritional support. An oral glucose tolerance test reveals impaired glucose tolerance but does not meet the criteria for diabetes. Which of the following is the most appropriate next step in management?
