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


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

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.28, ss.1379-1382, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 28
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1515/jpem-2014-0501
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.1379-1382

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.