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., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.28, no.11-12, pp.1379-1382, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 11-12
  • Publication Date: 2015
  • Doi Number: 10.1515/jpem-2014-0501
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1379-1382
  • Keywords: anti-Mullerian hormone, persistent Mullerian duct syndrome, 46,XY DSD, TRANSVERSE TESTICULAR ECTOPIA, HORMONE, GENE
  • Dokuz Eylül University Affiliated: Yes

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.