Congenital lipoid adrenal hyperplasia in a two-year old phenotypic female: report of a case and literature review

ABSTRACT

Congenital lipoid adrenal hyperplasia is a genetically transmitted, fatal disorder manifested by severe adrenal insufficiency and lack of differentiation of the external genitalia in males. In this report, a two-year old phenotypically female patient with this disorder is presented. The diagnosis was based on manifestation of salt loss during the first week of life. A buccal smear was negative for nuclear chromatin and a karyotyping study revealed a 46-XY genotype