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A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Aug 2020

Unal Edip, Yıldırım Ruken, Taş Funda Feryal, Tekin Suat, Ceylaner Serdar, Haspolat Yusuf Kenan

Abstract excerpt

Aims: 17α-hydroxylase deficiency is a rare form of congenital adrenal hyperplasia (CAH) which is inherited autosomal recessive. It occurs result of a mutations in gene cytochrome (CYP)17A1, which encodes both 17α-hydroxylase and 17,20-lyase enzymes. The main clinical findings of the disease are delayed puberty, primary amenorrhea in females, and disorders of sex development (DSD) in males. Also, hypertension and...

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Identifiers

PMID: 31885295
DOI: 10.1080/09513590.2019.1707798

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene.PMID 31885295Read ↗

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