ESPE Abstracts

ESPE Abstracts

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hrp0092p1-162 | Adrenals and HPA Axis (1) | ESPE2019

Evaluation of Molecular Characteristics and Steroid Metabolomics in a Large Cohort of Children with 3β-Hydroxysteroid Dehydrogenase 2 Deficiency

Guran Tulay , Kara Cengiz , Yildiz Melek , Bitkin Eda C. , Haklar Goncagul , Lin Jen-Chieh , Gilligan Lorna C. , Barnard Lise , Keskin Mehmet , Anik Ahmet , Catli Gonul , Guven Ayla , Kirel Birgul , Tutunculer Filiz , Onal Hasan , Turan Serap , Akcay Teoman , Atay Zeynep , Baranowski Elizabeth S. , Yilmaz Gulay C. , Mamadova Jamala , Akbarzade Azad , Sirikci Onder , Aghayev AghaRza , Alkan Afra , Shackleton Cedric H.L. , Storbeck Karl H. , Baris Tugba , Arlt Wiebke , Chung Bon-Chu , Bereket Abdullah

Context: Deficiency of 3β-hydroxysteroid dehydrogenase 2 (3βHSD2) causes a very rare form of congenital adrenal hyperplasia (CAH) known as 3βHSD2 deficiency, which is a consequence of biallelic HSD3B2 gene defects. The estimated prevalence is less than 1/1,000,000 live births. Knowledge of comprehensive steroid metabolome patterns in 3βHSD2 deficiency is scarce.Objective: We aimed...
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ESPE Abstracts

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