What question did this study set out to answer?

Investigate the clinical implications of a CYP17A1 variant causing hormonal deficiency in siblings.

May 7, 2026Clinical Pediatric Endocrinology0 citationsOpen Access

Molecular modeling and clinical characterization of a CYP17A1 variant (p.Asp298Asn) causing 17α-hydroxylase/17,20-lyase deficiency in two siblings

ESErtuğrul SancakSelçuk University MBMuammer BüyükinanSelçuk University AYAhmet Fatih YılmazSelçuk University

Key Points

Investigate the clinical implications of a CYP17A1 variant causing hormonal deficiency in siblings.
Clinical characterization of two siblings with hormonal deficiency
Molecular modeling to assess the CYP17A1 variant
Analysis of health impacts related to the variant
Identified a homozygous CYP17A1 variant (p.Asp298Asn) in both siblings
Highlighted risks including uncontrolled hypertension and osteoporosis

Abstract

l Two siblings with 17-hydroxylase/17,20-lyase deficiency carry a homozygous CYP17A1 variant (c.892G>A; p.Asp298Asn) that was not previously registered in public databases at initial submission and was previously uncharacterized at the case level.l Early diagnosis and multidisciplinary management are critical to prevent major complications in 46,XY individuals (e.g., uncontrolled hypertension, osteoporosis, psychosocial impact, and increased gonadal malignancy risk).

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