ESPE Abstracts

ESPE Abstracts

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hrp0094p2-25 | Adrenals and HPA Axis | ESPE2021

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

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

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.Pati...
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ESPE Abstracts

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