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Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency.

Hormone research in paediatrics - 1 Jan 2020

Kurnaz Erdal, Kartal Baykan Emine, Türkyılmaz Ayberk, Yaralı Oğuzhan, Yavaş Abalı Zehra, Turan Serap, Bereket Abdullah, Çayır Atilla, Guran Tulay

Abstract excerpt

CONTEXT: Steroid 17α-hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol, and excessive mineralocorticoid action. The clinical symptoms of hypocortisolemia are subtle. AIM: The clinical, biochemical, and molecular characteristics of patients with 17OHD were evaluated to determine the factors influencing the time of diagnosis and the management. PATIENTS AND METHODS:...

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PMID: 33780934
DOI: 10.1159/000515079

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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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Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency.PMID 33780934Read ↗

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