Revisiting Classical 3 beta-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases

GÜRAN, TÜLAY; Kara, Cengiz; YILDIZ, Melek; Bitkin, Eda; HAKLAR, GONCAGÜL; Lin, Jen-Chieh; KESKİN, MEHMET; Barnard, Lise; ANIK, AHMET; ÇATLI, GÖNÜL; Guven, Ayla; KIREL, BİRGÜL; TÜTÜNCÜLER, FİLİZ; Onal, Hasan; DEMİRCİOĞLU, SERAP; Akcay, Teoman; Atay, Zeynep; Yilmaz, Gulay; Mamadova, Jamala; Akbarzade, Azad; ŞİRİKÇİ, ÖNDER; Storbeck, Karl-Heinz; Baris, Tugba; Chung, Bon-Chu; BEREKET, ABDULLAH

doi:10.1210/clinem/dgaa022

Revisiting Classical 3 beta-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases

GÜRAN T., Kara C., YILDIZ M., Bitkin E. C., HAKLAR G., Lin J., ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.105, no.4, 2020 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 105 Issue: 4
Publication Date: 2020
Doi Number: 10.1210/clinem/dgaa022
Journal Name: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL, Agricultural & Environmental Science Database, BIOSIS, CAB Abstracts, Chemical Abstracts Core, CINAHL, EMBASE, Food Science & Technology Abstracts, Gender Studies Database, MEDLINE, Veterinary Science Database
Keywords: 3 beta HSD2 deficiency, CAH, HSD3B2, adrenal insufficiency, children, CONGENITAL ADRENAL-HYPERPLASIA, HSD3B2 GENE, 11-OXYGENATED ANDROGENS, MOLECULAR-BIOLOGY, MUTATION, TUMOR
Open Archive Collection: AVESIS Open Access Collection
Ondokuz Mayıs University Affiliated: Yes

Abstract

Context: The clinical effects of classical 3 beta-hydroxysteroid dehydrogenase 2 (3 beta HSD2) deficiency are insufficiently defined due to a limited number of published cases.