Adrenogenital syndrome

Adrenogenital syndrome, also commonly known as congenital adrenal hyperplasia (CAH), is a group of inherited disorders affecting the adrenal glands. The most common form is caused by deficiency of the enzyme 21-hydroxylase (encoded by the CYP21A2 gene), which is essential for the production of cortisol and aldosterone. When these hormones cannot be produced normally, the adrenal glands overproduce androgens (male sex hormones), leading to a range of clinical manifestations depending on the severity of the enzyme deficiency. In the classic salt-wasting form, which is the most severe, affected newborns may present with life-threatening adrenal crisis due to aldosterone deficiency, causing severe dehydration, hyponatremia, and hyperkalemia. Female infants with classic CAH are often born with ambiguous genitalia (virilization of external genitalia) due to excess androgen exposure in utero, while male infants may appear normal at birth but can develop adrenal crisis in the first weeks of life. The simple virilizing form causes genital ambiguity in females and early signs of excess androgen in both sexes, but without salt-wasting. The non-classic (late-onset) form is milder and may present later in childhood or adulthood with premature pubarche, accelerated growth and bone maturation, acne, hirsutism, menstrual irregularities, and reduced fertility. Treatment involves lifelong glucocorticoid replacement therapy (such as hydrocortisone) to suppress excess adrenal androgen production and replace deficient cortisol. Patients with salt-wasting forms also require mineralocorticoid replacement (fludrocortisone) and sodium supplementation, particularly in infancy. Stress dosing of glucocorticoids during illness, surgery, or trauma is critical to prevent adrenal crisis. Surgical management of ambiguous genitalia may be considered in severely virilized females. Newborn screening programs in many countries now allow early detection and treatment, significantly reducing morbidity and mortality. Regular monitoring of growth, hormonal levels, and bone age is essential for optimal management.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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