Endocrine & Reproductive Presentations

Presentations driven by sex development, growth, pubertal timing, fertility, or hormone synthesis. The reasoning frame usually starts with karyotype + hormone axis + target-organ response, then asks where the lesion lives along the hypothalamic-pituitary-end-organ chain. Several of these presentations are time-sensitive in the newborn period (CAH salt-wasting, congenital hypothyroidism, hypopituitarism with hypoglycemia), so stabilization runs in parallel with the diagnostic work-up. Multidisciplinary care (endocrinology, urology or gynecology, mental health, genetics) is the standard rather than the exception, and decisions about sex assignment, surgery timing, and family disclosure rest with the team and family, not the testing.