MeSH Browser

MeSH Supplementary: Lipoid congenital adrenal hyperplasia
Unique ID: C537027
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537027
Entry Term(s): Adrenal Hyperplasia I; Adrenal hyperplasia 1; Lipoid hyperplasia, congenital, of adrenal cortex with male pseudohermaphroditism
Registry Numbers: 0
Heading Mapped to: *Adrenal Hyperplasia, Congenital; *Disorder of Sex Development, 46,XY
Frequency: 47
Note: A severe hereditary autosomal recessive disorder of steroid hormone biosynthesis. It is caused by a defect in the conversion of CHOLESTEROL to PREGNENOLONE, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy. Mutations in the STAR gene have been identified. OMIM: 201710
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Lipoid congenital adrenal hyperplasia MeSH Supplementary Concept Data 2025