A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome

Nalbantoglu O., DEMİR K., Korkmaz H. A., Buyukinan M., Yildiz M., Tunc S., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.28, sa.11-12, ss.1379-1382, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28 Sayı: 11-12
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1515/jpem-2014-0501
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1379-1382
  • Anahtar Kelimeler: anti-Mullerian hormone, persistent Mullerian duct syndrome, 46,XY DSD, TRANSVERSE TESTICULAR ECTOPIA, HORMONE, GENE
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Background: Persistent Mullerian duct syndrome (PMDS) is a rare form of male 46, XY disorder of sex development characterized by the presence of Mullerian duct derivatives in otherwise phenotypically normal males.