Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility.

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Tác giả: Marc-Antoine Belaud Rotureau, Maud Bidet, Isis Carton, Auriane Cospain, Ludivine Dion, Mélanie Fradin, Daniel Guerrier, Sylvie Jaillard, Erika Launay, Alinoe Lavillaureix, Vincent Lavoué, Karine Morcel, Bénédicte Nouyou, Krystel Nyangoh Timoh, Sylvie Odent, Laurent Pasquier, Chloé Quelin, Paul Rollier

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: United States : Acta obstetricia et gynecologica Scandinavica , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 729266

 INTRODUCTION: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with utero-vaginal aplasia is the most severe form of the Müllerian duct anomalies and can be associated with extra-genital abnormalities such as renal or skeletal anomalies, hearing loss, or cardiac defects. The past two decades have witnessed significant advances both in understanding the etiologies of MRKH and in the development of fertility treatments such as uterine transplantation. The present work aimed to determine the rate of women with MRKH syndrome who underwent optimal initial management (after comprehensive malformation assessment) and to establish the rate of patients eligible for uterine transplantation (i.e., those with a vaginal length ≥7 cm without reconstruction using a bowel segment, and an anti-Müllerian hormone level >
 1.5 ng/mL before 35 years). MATERIAL AND METHODS: Cohort study of 85 women with MRKH syndrome consulting in our tertiary center. RESULTS: 62.4% of women with MRKH syndrome had an exhaustive malformative evaluation according to the French guidelines (Protocole National de Diagnostic et de Soin [PNDS]), of which 76.5% had associated malformations (MRKH type II). Pedigree, when available, showed a family history of infertility or a urogenital tract spectrum anomaly in 60% of cases. Concerning the uterine transplantation selection criteria, when evaluated, 22.6% of women had an anti-Müllerian hormone level <
 1.5 ng/mL and 36% a vaginal length <
 7 cm. On the 21 women with complete evaluation of both primary and secondary outcomes, 14 of them would be eligible for a uterine transplantation program at the time of consultation according to the main inclusion criteria of uterine transplantation program. CONCLUSIONS: Women with MRKH syndrome are often inadequately explored for associated malformations. Early assessment and monitoring of the ovarian reserve is key for fertility preservation, especially in the era of uterine transplantation.
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