A rare cause of a 46, XY disorders of sex development: Persistent mullerian duct syndrome


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Acar S., Paketci A., ONAY H. , Demir K., Ates O., Bober E., ...More

IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI, vol.7, no.3, pp.242-246, 2017 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 7 Issue: 3
  • Publication Date: 2017
  • Doi Number: 10.5222/buchd.2017.242
  • Title of Journal : IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI
  • Page Numbers: pp.242-246

Abstract

Persistent mullerian duct syndrome (PMDS) is a relatively rare form of a 46, XY disorders of sex development and clinically characterized by undescended testes and the presence of mullerian duct derivatives such as a uterus and fallopian tubes in males with normal external genitalia. The disease is frequently caused either by the genetic defect of the anti-mullerian hormone (AMH) or its receptor AMH receptor type 2 (AMHR2) gene. AMHR2 mutations have been reported in 45% of genetically proven cases with PMDS. The most common referral findings are bilateral cryptorchidism or transverse testicular ectopia. The presence of uterus and tubes is usually detected during surgery for cryptorchidism. Herein we have presented a PMDS patient with previously reported homozygous AMHR2 mutation, in whom mullerian structures (uterus and fallopian tubes) were detected during laparoscopic intervention performed with the indication of bilateral undescended testis.