Adrenogenital

Adrenogenital refers to a group of rare genetic disorders that affect the adrenal glands. These glands, located atop the kidneys, produce hormones that are vital for metabolism, immune function, sexual development, and stress response. In adrenogenital conditions, there is a deficiency in one of the enzymes required for the synthesis of these crucial hormones. This enzyme deficiency leads to an overproduction of certain precursors and an underproduction of others, most notably cortisol and aldosterone.

The most common form of adrenogenital syndrome is congenital adrenal hyperplasia (CAH). CAH can manifest in various ways depending on the specific enzyme affected and the severity of the deficiency. Classic CAH, which presents at birth or early infancy, often involves severe symptoms. In females with classic CAH, the hormonal imbalance can lead to virilization, meaning the development of male-like physical characteristics such as an enlarged clitoris and fused labia. Males with classic CAH may experience premature puberty and salt-wasting crises, which are life-threatening states of dehydration and electrolyte imbalance.

Non-classic CAH, also known as late-onset CAH, has milder symptoms that may not appear until childhood, adolescence, or even adulthood. Individuals with non-classic CAH may experience early puberty, irregular menstruation, acne, hirsutism (excess hair growth), and fertility issues. Diagnosis typically involves blood tests to measure hormone levels and genetic testing. Treatment focuses on hormone replacement therapy to normalize hormone levels and prevent complications. Early diagnosis and consistent management are essential for individuals with adrenogenital syndromes to lead healthy lives.