Molecular pathogenesis of XXXX and adrenal hypoplasia congenita.

@entity1 @entity3556 @entity5986 @entity624 @entity1640 @entity1887 @entity2539 @entity6126 @entity230 @entity41095 @entity774
@entity41095 (lipoid CAH) is the most severe form of CAH in which the synthesis of all gonadal and adrenal cortical @entity230 is markedly impaired. Lipoid CAH may be caused by the defect in either the @entity624 ( @entity624 ) protein or the @entity5986 . More than 34 different mutations in @entity624 gene have been identified. Clinically, most of the @entity1 manifest @entity1887 from 1 day to 2 months of age, but some @entity1 show delayed onset of @entity1887 . Affected 46, XY subjects do not show pubertal development, whereas affected 46, XX subjects undergo spontaneous feminization, breast development and cyclical @entity3556 at the usual age of puberty. X-linked @entity774 ( @entity774 ) is a rare @entity774 characterized by severe @entity1887 and @entity6126 . More than 80 different several intragenic mutations of @entity2539 have been identified. The failure of pubertal development may be caused by either @entity1640 or pituitary regulation of gonadotropin secretion. In addition, although the testicular steroidogenesis is largely intact, the functional maturity of Sertoli cells and also spermatogenesis are impaired. The type of mutation does not predict clinical phenotype. Thus, unified mechanism how @entity2539 gene defect gives rise to @entity1887 , @entity1640 /pituitary @entity6126 and impaired spermatogenesis remains established.
