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; Keskin, Mehmet; Barnard, Lise; Anık, Ahmet; Çatlı, Gönül; Guven, Ayla; Kirel, Birgül; Tütüncüler, Filiz; Onal, Hasan; Demircioğlu, SERAP; Akcay, Teoman; Atay, Zeynep; Yilmaz, Gulay; Mamadova, Jamala; Akbarzade, Azad; Şirikçi, 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

Atıf İçin Kopyala

Güran T., Kara C., Yildiz M., Bitkin E. C., Haklar G., Lin J., ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.105, sa.4, 2020 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 105 Sayı: 4
Basım Tarihi: 2020
Doi Numarası: 10.1210/clinem/dgaa022
Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: 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
Anahtar Kelimeler: 3 beta HSD2 deficiency, CAH, HSD3B2, adrenal insufficiency, children, CONGENITAL ADRENAL-HYPERPLASIA, HSD3B2 GENE, 11-OXYGENATED ANDROGENS, MOLECULAR-BIOLOGY, MUTATION, TUMOR
Marmara Üniversitesi Adresli: Evet

Özet

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.