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Article

Case Report: A Novel Mutation Leading to 11-β Hydroxylase Deficiency in a Female Patient.

Endocrine, metabolic & immune disorders drug targets - 1 Jan 2023

Ozbas Burak, Demir Mikail, Dursun Huseyin, Sahin Izem, Hacioglu Aysa, Karaca Zuleyha, Dundar Munis, Unluhizarci Kursad

Abstract excerpt

BACKGROUND: 11β hydroxylase deficiency (11βOHD) ranks as the second most common enzyme deficiency that causes congenital adrenal hyperplasia. Depending on the severity of the enzyme deficiency, it can lead to cortisol deficiency, androgen excess and hypertension due to increased mineralocorticoid precursor levels. Many different types of mutations in the CYP11B1 gene located on chromosome 8q24.3 have been shown...

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Identifiers

PMID: 36214299
DOI: 10.2174/1871530322666221007145410
PMCID: PMC10249131

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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