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., ...Daha Fazla

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

  • 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.