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Congenital Lipoid Adrenal Hyperplasia

Meaning

Congenital Lipoid Adrenal Hyperplasia (CLAH) is a severe, autosomal recessive disorder of steroidogenesis, characterized by a fundamental defect in the initial step of cholesterol transport into the mitochondria of adrenal and gonadal cells. This genetic error leads to a profound inability to synthesize all adrenal and gonadal steroid hormones, including cortisol, aldosterone, and sex steroids, resulting in a life-threatening adrenal crisis shortly after birth. The condition is clinically recognizable by the accumulation of cholesterol esters within the adrenal cortex, hence the term “lipoid.”