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Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature.

Journal of endocrinological investigation - 1 Jan 2023

Gusmano C, Cannarella R, Crafa A, Barbagallo F, La Vignera S, Condorelli R A, Calogero A E

Abstract excerpt

BACKGROUND: P450 oxidoreductase (POR) deficiency (PORD) is characterized by congenital adrenal hyperplasia (CAH) and disorders of sex development (DSD) in both sexes. PORD can also associate with skeletal defects. However, the prevalence of these phenotypes is unknown. AIM: To evaluate the prevalence of CAH, DSD, and infertility of patients with POR gene pathogenic variants by a systematic review of the...

Topics

Humans
Pregnancy
Male
Female
Adrenal Hyperplasia, Congenital
Infertility, Male
Mutation
Phenotype
Heterozygote

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35842891
DOI: 10.1007/s40618-022-01849-9
PMCID: PMC9829634

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