Overview
Introduction
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders in which an adrenal enzyme deficiency reduces steroid hormone production.
Congenital adrenal hyperplasia (CAH) is a group of autosomal-recessive disorders in which an adrenal enzyme deficiency reduces steroid hormone production. The most common form is 21-hydroxylase deficiency, which can reduce both cortisol and aldosterone while leaving androgen synthesis relatively unblocked. That mechanism creates two nursing priorities. First, a newborn or child can deteriorate rapidly from adrenal crisis, particularly when vomiting prevents oral medication from being absorbed. A two-week-old infant with poor feeding, weight loss, hypotension, hypoglycemia, hyponatremia, and hyperkalemia needs emergency treatment for suspected CAH even if the newborn screen was reported as normal. Second, CAH requires carefully balanced lifelong replacement: inadequate treatment permits androgen excess and crisis, while excessive glucocorticoid exposure suppresses growth and causes iatrogenic harm. Some infants with CAH have atypical external genitalia or a difference in sex development. Assessment and communication must therefore protect privacy, avoid repeated examinations, and involve the family and, as the child matures, the patient in decisions.