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., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.28, pp.1379-1382, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 28
  • Publication Date: 2015
  • Doi Number: 10.1515/jpem-2014-0501
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.1379-1382

Abstract

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.