A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency.

doi:10.1093/labmed/lmac141

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A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency.

Laboratory medicine - 5 Jul 2023

Hoseinzadeh Marziyeh, Molavi Newsha, Norouzi Mahnaz, Aghaei Shahrzad, Zeinalian Mehrdad, Hashemipour Mahin, Tabatabaiefar Mohammad Amin

Abstract excerpt

OBJECTIVE: Congenital adrenal hyperplasia (CAH) addresses a number of autosomal recessive disorders characterized by the enzyme defects in steroid hormones biosynthesis. The second common form of CAH is caused by mutations in the CYP11B1 gene. Here, we reveal a novel mutation in the CYP11B1 gene related to the 11βOHD phenotype. METHODS AND RESULTS: Sequence analysis of the CYP11B1 gene in a 19-year-old Iranian...

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A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency.

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A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency.

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