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Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients

Authors :
Hong-Juan Tian
De-Hua Wu
Wei Ru
Ding-Wen Wu
Chang Tao
Guang-Jie Chen
Jin-Na Yuan
Jun-Fen Fu
Da-Xing Tang
Source :
Asian Journal of Andrology, Vol 24, Iss 1, Pp 78-84 (2022)
Publication Year :
2022
Publisher :
Wolters Kluwer Medknow Publications, 2022.

Abstract

Persistent Müllerian duct syndrome (PMDS) is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone (AMH) gene or the anti-Müllerian hormone receptor type 2 (AMHR2) gene. Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries. Since it is rare and complex, a definitive clinical diagnosis can be missed, and there are no guidelines regarding how to deal with the uterus. In the present study, exome sequencing and Sanger verification were performed for causal variants in 12 PMDS patients. Preoperative diagnoses were made by positive exome sequencing in 8 patients. Of them, 7 patients evoked on the basis of ultrasound indicating bilateral testes on the same side of the body. Twelve different AMH variants (2 frameshift/nonsense, 1 deletion, 8 missense, and 1 in-frame) in 9 patients and 6 different AMHR2 variants (5 missense and 1 splicing) in 3 patients were identified. Seven variants were classified as “pathogenic” or “likely pathogenic”, and 4 of them were novel. All but two patients with AMH defects showed low serum AMH concentrations, but all patients with AMHR2 defects showed elevated AMH levels. During surgery, an abnormal vas deferens was observed in half of the patients. Eight patients underwent orchidopexy with uterine preservation. Of them, 2 patients presented complications including irreducible cryptorchidism, and 3 patients developed Müllerian remnant cysts. Three patients underwent subtotal hysterectomy. Of them, one patient had complication of injury to the vas deferens, and one had hemorrhage after operation. This is the first report of PMDS involving a large Chinese population. The present study not only expands the variation spectrum but also provides clinical experience about the management of the uterus.

Details

Language :
English
ISSN :
1008682X and 17457262
Volume :
24
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Asian Journal of Andrology
Publication Type :
Academic Journal
Accession number :
edsdoj.f80601781a5544018cd4842f58de9694
Document Type :
article
Full Text :
https://doi.org/10.4103/aja202175