ESPE2023 Poster Category 2 Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (27 abstracts)
Persistent Müllerian duct syndrome and the identification of a yet unreported homozygous mutation in AMHR2 gene
Luminita-Nicoleta Cima 1,2 , Raluca Oprescu 1 , Ana Zubaci 1 , Mihaela Tarna 1 , Marina Iliescu 1 , Sabina Dumitrache 1 , Iustina Grosu 1 , Isabela Draghici 3,2 , Adela Chirita-Emandi 4,5 , Maria Puiu 4,5 , Carmen Gabriela Barbu 1,2 , Mihaela Viorica Popescu 6 & Simona Fica 1,2
1Elias University Hospital, Bucharest, Romania. 2Carol Davila University of Medicine and Pharmacy, Bucharest, Romania. 3Marie Curie Children's Hospital, Bucharest, Romania. 4Louis Țurcanu Children's Hospital, Timisoara, Romania. 5Victor Babes University of Medicine and Pharmacy, Timisoara, Romania. 6Rosana Clinic, Bucharest, Romania
Introduction: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. PMDS is caused by mutations in the genes coding anti-Müllerian hormone (AMH, PMDS type 1) or the AMH receptor (AMHR2 gene, PMDS type 2) and it usually presents as undescended testes (cryptorchidism) or inguinal hernias.
Case report: We present the case of a 13-year-old boy, with a history of bilateral cryptorchidism. Several attempts of right orchidopexy were performed in 2013 and 2014. Exploratory laparoscopy was performed in search of the left testis that was identified intraabdominally and a fibrous structure extending from the left testis to the deep inguinal ring was identified (Mullerian duct remnants) and also a medially located abdominal mass, bilaterally fixated to the parietal peritoneum (uterine remnant). The mass was dissected and left orchidopexy was performed. Testicular biopsy revealed immature prepubertal testicular tissue. The karyotype was 46XY, without other numerical or structural chromosomal abnormalities. Reinterventions for left testis ectopy were performed in 2018 and subsequently in 2021, when a left testicular remnant was identified in the inguinal canal and removed (histopathologic examination was consistent with testicular agenesis). Three months after the left orchidectomy surgery, ultrasound followed by abdominopelvic RMI identified a structure resembling a testis in the left inguinal canal. Another laparoscopic exploration was undergone and a biopsy from the suspected mass was performed. The histopathologic examination showed characteristics of immature testis. The patient was later referred to our clinic with the suspicion of sexual differentiation disorder. Serum AMH and inhibin B were normal. Therefore, the diagnosis of PMDS was suspected. Genetic testing was performed using Next Generation Sequencing in a gene panel that included AMH and AMHR2 genes. A homozygous variant classified as likely pathogenic in AMHR2 gene was identified, yet unreported in the literature.
Conclusion: High degree of suspicion and awareness is needed to diagnose this condition. Early treatment is needed to maintain fertility and to prevent the occurrence of malignancy in remnant Müllerian structures.
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