, Volume 16, Issue 2, pp 205–208 | Cite as

Persistent Müllerian duct syndrome: A novel mutation in the Anti-Müllerian Hormone gene

  • Ayça AltincikEmail author
  • Fahri Karaca
  • Hüseyin Onay
Case report


BACKGROUND AND OBJECTIVE: Persistent Müllerian duct syndrome (PMDS) is a relatively rare form of 46,XY disorder of sex development caused by the failure of formation, release or action of anti-Müllerian hormone (AMH) in intrauterine life. In this report we describe a case diagnosed with PMDS with a novel homozygous mutation in the AMH gene. CASE REPORT: A 4-month-old male presented with bilateral cryptorchidism and normal external genitalia. The laboratory examination revealed normal gonadotropin levels for his age (FSH: 0.91 mIU/mL, LH: 1.23 mIU/mL, testosteron <0.13 ng/mL, respectively). AMH was undetectable (<0.01 ng/mL). Ultrasonography (USG) revealed absence of the left gonad and an intraabdominally located right gonad. Laparoscopy demonstrated the presence of a rudimentary uterus and fallopian tubes. Karyotyping revealed a normal 46,XY karyotype. Molecular genetic analysis demonstrated a novel homozygous mutation fp.C526F (c.1577G>T)] in the AMH gene. CONCLUSION: PMDS should be kept in mind in all cases with bilateral crytorchidism. Orchidopexy and resection of Mulletian duct derivates, exercising extra caution with regard to maintaining vascular supply to the testis, is the recommended approach.

Key words

AMH Crytorchidism Disorders of sex development 


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Copyright information

© Hellenic Endocrine Society 2017

Authors and Affiliations

  1. 1.Pediatric Endocrinology ClinicDenizli State HospitalDenizliTurkey
  2. 2.Pediatric Surgery ClinicDenizli State HospitalDenizliTurkey
  3. 3.Medical Genetics DepartmentEge University Faculty of MedicineİzmirTurkey

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