Congenital Adrenal Hyperplasia

What this deck covers

Congenital Adrenal Hyperplasia in twelve clinical teaching cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong.

Diagnoses and management options tested

Across the twelve cases you are asked to choose between options such as: Androgen insensitivity syndrome, Turner syndrome, Congenital hypopituitarism, Prader stage 1, Salt-wasting classic congenital adrenal hyperplasia, Non-classic congenital adrenal hyperplasia, 11-beta-hydroxylase deficiency, Morning cortisol level alone, Abdominal computed tomography scan, Karyotype analysis, Hydrocortisone 5 mg/m²/day, once daily only, Prednisolone 2 mg/m²/day, plus potassium supplementation, Intramuscular fludrocortisone 200 µg immediately, Polycystic ovary syndrome, Idiopathic hirsutism, Androgen-secreting ovarian tumour, Testicular germ cell tumors, Testicular adrenal rest tumors, Leydig cell hyperplasia, Testicular torsion.

Clinical pearls from this deck

• The classic picture: a 46,XX newborn with ambiguous genitalia plus hyponatremia with hyperkalemia and hypoglycemia. Salt-wasting crisis characteristically appears at day 7–14 of life, and >90% of CAH is 21-hydroxylase deficiency. Hyperpigmentation reflects high ACTH. Delay can be fatal — keep a high index of suspicion in any vomiting, dehydrated newborn. Androgen insensitivity gives a 46,XY infant with female external genitalia and normal electrolytes.
• 21-hydroxylase is required for BOTH cortisol and aldosterone, so both fall. Low cortisol removes negative feedback → ACTH surges → the adrenal is driven hard and accumulated precursors are shunted down the androgen pathway. That single mechanism explains the whole triad: virilization (androgen excess), salt-wasting (aldosterone deficiency), and hyperpigmentation (high ACTH acting on melanocortin receptors).

The twelve worked cases in this deck, with the images and the full explanation of every option, are part of Pediatric Case Review membership. See what is included.

More from this system: all metabolic and genetic decks and question sets · pediatric reference values.