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Lipoid congenital adrenal hyperplasia MeSH Supplementary Concept Data 2025


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 Preferred
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