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Definition

The most severe form of adrenal hyperplasia. It is a condition characterized by onset of profound adrenocortical insufficiency shortly after birth, hyperpigmentation reflecting increased production of pro-opiomelanocortin, elevated plasma renin activity as a consequence of reduced aldosterone synthesis, and male pseudohermaphroditism resulting from deficient fetal testicular testosterone synthesis. Affected individuals are phenotypic females irrespective of gonadal sex, and frequently die in infancy if mineralocorticoid and glucocorticoid replacement are not instituted.

Acronym

AH1

Synonyms

Congenital lipoid adrenal hyperplasia
Congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism
Lipoid CAH

Keywords

Congenital adrenal hyperplasia

 
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