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Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation

Lipoid congenital adrenal hyperplasia (LCAH) is characterized by disturbance of adrenal and gonadal steroidogenesis (OMIM:201710). It is caused by mutation in the Steroidogenic Acute Regulatory Protein (StAR). We report a classic case of LCAH in a neonate (46, XY) with phenotypic female genitalia wh...

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Detalles Bibliográficos
Autores principales: Bakkar, Ayman A, Alsaedi, Abdulaziz, Kamal, Naglaa M, Althobaiti, Enad, Aboulkhair, Lujain A, Almalki, Abdullah M, Alsalmi, Shaima A, Alharthi, Qaydah, Abosabie, Sara A, Abosabie, Salma AS
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10226314/
https://www.ncbi.nlm.nih.gov/pubmed/37255966
http://dx.doi.org/10.1177/11795514231167059