SUN-204 Case of Non-Classic Congenital Adrenal Hyperplasia with Compound CYP21A2 Mutations Combined with CYP11B1 Mutation

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, caused by a deficiency in one of the enzymes involved in adrenal steroid synthesis. Homozygotes usually have a severe classical CAH phenotype. Heterozygotes, carrying only one abnormal copy of the gene, are though...

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Detalles Bibliográficos
Autores principales: Salameh, Rami, Prater, Janna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Adrenal
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208361/
http://dx.doi.org/10.1210/jendso/bvaa046.402

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208361/
http://dx.doi.org/10.1210/jendso/bvaa046.402

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