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

• Үндсэн зохиолчид: Hossam A Aldosari (Зохиогч), Rawand N Alharbi (Зохиогч)
• Формат: Ном
• Хэвлэсэн: Wolters Kluwer Medknow Publications, 2023-01-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: Connect to this object online.

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...