11β-hydroxylase deficiency caused by a novel CYP11B1 variant: A case report

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroid biosynthesis. 11β-hydroxylase deficiency (11 β-OHD) – caused by a mutation in CYP11B1 – is responsible for 5%–8% of all CAH cases. In the classic form, genotypic female newborns exhibit ambiguous geni...

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Autors principals:	Hossam A Aldosari, Rawand N Alharbi
Format:	Artigo
Idioma:	Inglês
Publicat:	Wolters Kluwer Medknow Publications 2023-01-01
Col·lecció:	Journal of Nature and Science of Medicine
Matèries:	11β-hydroxylase deficiency congenital adrenal hyperplasia cyp11b1 hypertensive congenital adrenal hyperplasia pseudoprecocious puberty
Accés en línia:	http://www.jnsmonline.org/article.asp?issn=2589-627X;year=2023;volume=6;issue=2;spage=105;epage=108;aulast=Aldosari
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