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Persistent Müllerian duct syndrome: A novel mutation in the Αnti-Müllerian Ηormone gene
Ayça Altincik1, Fahri Karaca2, Hüseyin Onay3
1Pediatric Endocrinology Clinic, Denizli State Hospital, 20100, Denizli, Turkey. ayca.altincik@deu.edu.tr.
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 [p.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.
Insights
Persistent Müllerian duct syndrome (PMDS) is a rare 46,XY disorder of sex development. A novel homozygous mutation in the AMH gene was identified in a case of PMDS presenting with bilateral cryptorchidism.
Area of Science:
- Endocrinology
- Genetics
- Pediatric Surgery
Background:
- Persistent Müllerian duct syndrome (PMDS) is a rare 46,XY disorder of sex development.
- It results from impaired anti-Müllerian hormone (AMH) function during fetal development.
- This condition is characterized by the presence of Müllerian duct remnants in phenotypically male individuals.
Observation:
- A 4-month-old male infant presented with bilateral cryptorchidism and otherwise normal external genitalia.
- AMH levels were undetectable, while gonadotropin levels were age-appropriate.
- Imaging revealed an intraabdominal right gonad and absence of the left gonad, with laparoscopy confirming a rudimentary uterus and fallopian tubes.
Findings:
- Karyotyping confirmed a normal 46,XY karyotype.
- Molecular genetic analysis identified a novel homozygous mutation (p.C526F, c.1577G>T) in the AMH gene.
- This genetic finding provides a molecular basis for the observed PMDS phenotype.
Implications:
- PMDS should be considered in the differential diagnosis of all cases of bilateral cryptorchidism.
- Surgical management involves orchidopexy and resection of Müllerian duct remnants.
- Careful surgical technique is crucial to preserve testicular vascular supply during these procedures.
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