Overview
Introduction
🚩 Neonatal salt wasting crisis — typically 1–3 weeks of age: Poor feeding, vomiting (often projectile, and mistaken for pyloric stenosis), weight loss or failure to regain birt...
🚩 Neonatal salt-wasting crisis — typically 1–3 weeks of age: - Poor feeding, vomiting (often projectile, and mistaken for pyloric stenosis), weight loss or failure to regain birth weight - Dehydration, lethargy, hypotonia - Hypotension, tachycardia, poor perfusion, shock - Hypoglycemia — irritability, jitteriness, seizures - Hyperpigmentation from high ACTH This is frequently mistaken for sepsis, pyloric stenosis, or gastroenteritis. The discriminator is the electrolyte pattern: low sodium with HIGH potassium. Pyloric stenosis produces the opposite metabolic picture — hypochloremic, hypokalemic alkalosis. At birth (classic forms): - 46,XX infants — virilized external genitalia, ranging from mild clitoromegaly to appearances that make sex assignment uncertain at delivery. Internal reproductive structures are typically normal. - 46,XY infants — usually typical external appearance; may show subtle hyperpigmentation or penile enlargement In childhood (simple virilizing, or inadequately treated classic disease): accelerated linear growth with an advanced bone age, early pubic and axillary hair, acne, adult body odour, and — paradoxically — short final adult height because the growth plates fuse early. Nonclassic, presenting later: hirsutism, treatment-resistant acne, irregular or absent periods, subfertility, and premature...