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Article

A differential expression of an identical mutation in CYP17A1 gene in two infertility patients: a case report.

Journal of medical case reports - 23 Jul 2024

Rabinovich Elay, Hershko-Klement Anat, Bentov Yaakov

Abstract excerpt

BACKGROUND: 17-Hydroxylase deficiency is the rarest form of congenital adrenal hyperplasia, a disorder that affects steroidogenesis, causing abnormal hormone levels. Studies have shown a clear association between 17-hydroxylase deficiency and primary infertility, but a definite protocol to treat the disorder has not been determined yet. CASE PRESENTATION: Case I presents a 24-year-old Caucasian Israeli-Arab...

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Share to Adrenal Hyperplasia, Congenital
Share to Fertilization in Vitro

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39039557
DOI: 10.1186/s13256-024-04654-5
PMCID: PMC11265429

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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