Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications

IntroductionMayer‐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 MethodsCohort study of 85 women with MRKH syndrome consulting in our tertiary center.Results62.4% 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.ConclusionsWomen 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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Symptomatic Uterine Rudiments in Adolescents and Adults with Mayer–Rokitansky–Küster–Hauser Syndrome (MRKHS): Management and Outcomes

Buda,

Zajączkowska,

Madziar

et al. 2024

JCM

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Background: Women with an aplastic uterus (ESHRE/ESGE classification) or Müllerian agenesis (ASRM MAC 2021) might present with functional uterine remnants. Our study aimed to report the clinical course of symptomatic uterine rudiments in adolescents and adults with Mayer–Rokitansky–Küster–Hauser syndrome (MRKHS). Methods: This study involved 20 patients with MRKHS who, between 2012 and 2023, underwent surgery for symptomatic uterine horns at the mean age of 25.2 years in the Division of Gynaecology, Gynaecological and Obstetric Clinical Hospital, Poznan University of Medical Sciences, Poland. The records of the patients were retrospectively analysed. Results: The volume of the uterine horns ranged from 0.8 to 58.3 cm3, and the volume of the endometrial cavity within the horns ranged from 0.03 to 12 cm3, with no significant difference between adolescents and adults (p = 0.36). In five patients (25%), MRKHS was identified during the diagnosis of recurrent pelvic pain at the age of 12.6–14.8 years. In 19 patients, uterine rudiments were removed: unilaterally in 3 patients (16%), bilaterally in 16 patients (84%), and laparoscopically in 89% of cases. In one patient, the horn was preserved (horno-neovaginal anastomosis). Histopathology confirmed the presence of the endometrium in uterine rudiments ipsilateral to the pain location in 75% of cases. Four patients (20%) were diagnosed with endometriosis. Conclusions: Recurrent pelvic pain in patients with MRKHS should prompt the diagnosis of functional uterine rudiments. The resection of symptomatic uterine horns can result in the complete resolution of pain. Patients with endometriosis are at risk of pain recurrence. In some patients strongly desirous of menstruation, horno-neovaginal anastomosis can be cautiously attempted.

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Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications

Cited by 4 publications

References 161 publications

Androgen insensitivity syndrome (AIS): Complete AIS (CAIS)

Androgen insensitivity syndrome (AIS): Complete AIS (CAIS)

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

Symptomatic Uterine Rudiments in Adolescents and Adults with Mayer–Rokitansky–Küster–Hauser Syndrome (MRKHS): Management and Outcomes

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