Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) is an inherited disorder most commonly caused by 21-hydroxylase deficiency, leading to impaired cortisol synthesis and excessive adrenal androgen production. Classic CAH presents in infancy with severe enzymatic deficiency and includes salt-wasting and simple virilizing forms, both of which may result in life-threatening adrenal crises if untreated. Females may present with virilized external genitalia, whereas males, except for occasional subtle changes, typically have normal genital appearance at birth. Lifelong glucocorticoid therapy, often combined with mineralocorticoid replacement, is required; however, treatment-related complications and chronic androgen excess can adversely affect growth, fertility, and metabolic health. Poor hormonal control is associated with precocious puberty, reduced adult height, and reproductive dysfunction in both sexes. Nonclassic CAH is a milder form that typically presents later in life with symptoms such as hirsutism, acne, or menstrual irregularities, particularly in females. Although advances in screening, diagnostic techniques, and treatment strategies have improved patient outcomes, significant challenges remain in long-term disease management. Emerging therapeutic approaches, including glucocorticoids that better mimic the physiological cortisol rhythm and androgen-lowering therapies independent of glucocorticoid action, show promise. Greater emphasis on mental health and individualized, life-stage–appropriate care is essential, with particular attention to ensuring a smooth transition from pediatric to adult healthcare services. Real life cases highlighting how we should approach patients suffering from congenital adrenal hyperplasia and related complications will be discussed.