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

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).