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Article

17α-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jul 2015

Keskin Melikşah, Uğurlu Aylin Kılınç, Savaş-Erdeve Şenay, Sağsak Elif, Akyüz Sare Gülfem, Çetinkaya Semra, Aycan Zehra

Abstract excerpt

17α-Hydroxylase/17-20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia. Genetic defects causing combined 17OHD lead to the impaired production of cortisol and sex steroids, accumulation of mineralocorticoids, and compensatory overproduction of pituitary adrenocorticotropic hormone. Consequently, individuals with this enzymatic defect present with both adrenal cortical hyperplasia and...

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PMID: 25719302
DOI: 10.1515/jpem-2014-0444

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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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17α-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene.PMID 25719302Read ↗

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