Abstract Search

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...

0 shares

ePoster

hrp0089p2-p239 | Growth & Syndromes P2 | ESPE2018

Heart and Aorta Anomalies in Turner Syndrome and Relation with Karyotype

Kardelen Aslı Derya , Darendeliler Feyza , Gencay Genco , İnce Zuhal , Aliyev Behruz , Ozturan Esin Karakılıc , Abalı Zehra Yavaş , Poyrazoğlu Şukran , Nişli Kemal , Baş Firdevs

Introduction: Turner Syndrome (TS) is known to be associated with a high risk of cardiac anomalies and cardiovascular diseases. Detailed cardiac evaluation at diagnosis and serial evaluation for dissection is warranted.Aim: This study aimed to evaluate TS patients for cardiac pathology using MRI.Methods: Clinical findings, karyotypes, echocardiogram results, cardiac MRI findings of 33 patients with TS were evaluated. Measurements o...

0 shares

ePoster

ESPE Abstracts

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

Heart and Aorta Anomalies in Turner Syndrome and Relation with Karyotype

BiosciAbstracts