Congenital lipoid adrenal hyperplasia with 46, XY karyotype and male external genitalia: Two cases and literature review / 中华内分泌代谢杂志

ABSTRACT

Congenital lipoid adrenal hyperplasia (CLAH) is a rare autosomal recessive disorder, which is characterized by adrenal insufficiency and 46, XY sex reversal. Two cases of CLAH with 46, XY karyotype exhibited male external genitalia were reported to explore the clinical and genetic features. A retrospective analysis of CLAH with relevant literatures was performed.