Endocrine Abstracts

Background: Persistent Müllerian Duct syndrome (PMDS) is characterised by the presence of Müllerian structures in a 46XY male. PMDS can result from either a defect in Anti-Müllerian hormone (AMH) production or in the AMH receptor. AMH causes the Müllerian ducts to atrophy, enabling the testes to move transabdominally to the deep inguinal rings and into the scrotum. In the absence of AMH action, PMDS can cause problems with testicular descent. We present a family kindred with PMDS highlighting some important aspects of this condition.

Case presentations

Index case: An 18-month-old boy was referred with bilateral undescended testicles. Laparoscopy and orchidopexy revealed PMDS. He had a 46XY karyotype and AMH was undetectable, confirming AMH deficiency.

Case 2: His 9-year-old brother had previously undergone open orchidopexy for bilateral undescended testicles at 12 months. His testes became impalpable post-operatively and he was known to the endocrine service with a diagnosis of ‘vanishing testes syndrome’. He was re-evaluated subsequent to the index case’s diagnosis and PMDS was found on laparoscopy. His left testis was found at the inguinal ring, tethered to the Müllerian ducts, necessitating repeat orchidopexy.

Case 3: The father’s brother also had bilateral undescended testes which were never operated on in childhood. He went through puberty appropriately but was not able to father children. He was diagnosed as having a Müllerian remnant when operated on for a seminoma of his intra-abdominal testis aged 40.

Conclusions: The Müllerian remnants were not observed originally in Case 2 as an open orchidopexy was performed through bilateral incisions, hence midline structures were not seen. Embryological knowledge of the genital tract is essential for understanding PMDS and associated pathologies. The Müllerian remnants are generally left in situ, however there are reports of uterine cancer in the literature, hence ongoing surveillance should be ensured.