AdrenogenitalSyndrome

Adrenogenital syndrome, also known as congenital adrenal hyperplasia (CAH), is a group of inherited genetic disorders that affect the adrenal glands. These glands, located on top of the kidneys, produce hormones like cortisol, aldosterone, and androgens. In CAH, a deficiency in certain enzymes prevents the adrenal glands from producing adequate amounts of cortisol and aldosterone. This leads to an overproduction of androgens, which are typically considered male sex hormones.

The symptoms of CAH vary depending on the specific enzyme deficiency and the degree of androgen excess. In females, virilization can occur, leading to the development of male-like physical characteristics such as a enlarged clitoris, fused labia, and increased body hair. In males, symptoms may include premature puberty, enlarged genitalia, and early development of secondary sex characteristics. Both sexes can experience salt-wasting, a life-threatening condition where the body loses too much salt and water, leading to dehydration, low blood pressure, and even shock.

CAH is diagnosed through newborn screening, genetic testing, and hormone level analysis. Treatment typically involves hormone replacement therapy to supplement the deficient hormones and suppress androgen production. This management aims to normalize hormone levels, prevent adrenal crises, and allow individuals to develop and live healthy lives. Early diagnosis and consistent treatment are crucial for managing the condition and preventing serious complications.