5th April 2024

Pathophysiology

Congenital adrenal hyperplasia (CAH) is a genetic condition that presents with prepubertal excessive male characteristics in infants or children. The condition is caused by enzyme deficiencies, with a deficiency of 21-hydroxylase responsible for 90% of cases. The deficiencies lead to inadequate production of cortisol, leading to increased levels of ACTH and cortisol precursor hormones. In infants, the condition presents with failure to thrive, and later in childhood with precocious puberty, short stature, atypical genitalia, irregular menses and hirsutism in females.