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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., (© 2024 The Author(s). Acta Obstetricia et Gynecologica Scandinavica published by John Wiley & Sons Ltd on behalf of Nordic Federation of Societies of Obstetrics and Gynecology (NFOG).)

Premature ovarian insufficiency (POI) affects 1 in 100 women and is a leading cause of female infertility. There are over 80 genes in which variants can cause POI, with these explaining only a minority of cases. Whole exome sequencing (WES) can be a useful tool for POI patient management, allowing clinical care to be personalized to underlying cause. We performed WES to investigate two French sisters, whose only clinical complaint was POI. Surprisingly, they shared one known and one novel likely pathogenic variant in the Perrault syndrome gene, LARS2. Using amino-acylation studies, we established that the novel missense variant significantly impairs LARS2 function. Perrault syndrome is characterized by sensorineural hearing loss in addition to POI. This molecular diagnosis alerted the sisters to the significance of their difficulty in following conversation. Subsequent audiology assessment revealed a mild bilateral hearing loss. We describe the first cases presenting with perceived isolated POI and causative variants in a Perrault syndrome gene. Our study expands the phenotypic spectrum associated with LARS2 variants and highlights the clinical benefit of having a genetic diagnosis, with prediction of potential co-morbidity and prompt and appropriate medical care, in this case by an audiologist for early detection of hearing loss., (© 2022. The Author(s), under exclusive licence to European Society of Human Genetics.)

Competing Interests: Declarations of Competing Interest none

Backgrounds: Dysmenorrhea is the most common gynecological complaint in young women but is overlooked by recent studies. Our objective was to evaluate the prevalence of dysmenorrhea in adolescents in France and its impact on daily living., Methods: It was a cross-sectional study conducted between April-May 2019, in eight randomly selected high schools in France. Participants were randomly selected post-menarche girl pupils 15-19 years who completed a 50-item questionnaire. Dysmenorrhea severity was assessed with the Numerical Rating Scale (NRS) and Verbal Multidimensional Scoring System Scale (VMSS)., Results: Questionnaires from 953 girls were analyzed (mean age: 16.9 years). The prevalence of dysmenorrhea was 92.9% with 8.9% describing their pain as severe. Impact on quality of life was significant: 43.3% reported school absences because of dysmenorrhea, 74.9% difficulties in attending classes and 77.2% difficulties in sports activities. Risk factors of severe dysmenorrhea in multivariate analysis were heavy menstrual bleeding (OR 2.02, 95%CI [1.12; 3.63] p = 0.0192), early menarche (OR 0.68, 95%CI [0.57; 0.81] p<0.0001), chronic pelvic pain (OR 2.60, 95%CI [1.10; 6.11] p = 0.0274), BMI (BMI<18, OR 1.94, 95%CI [1.03; 3.66] p = 0.0335). Of the 50.4% who had consulted a physician, 45.4% had seen a general practitioner. Among the girls who had not consulted, 55.1% reported that menstruation was a "woman's burden"., Conclusions: Dysmenorrhea is highly prevalent in adolescents in France and has a real impact on daily living with social repercussions. As such, it should be treated as a public health problem with educational and information campaigns targeting the girls themselves, their families and healthcare professionals., Competing Interests: Declaration of Competing Interest The authors declare no conflict of interest., (Copyright © 2022 Elsevier Masson SAS. All rights reserved.)

Premature ovarian insufficiency (POI) is a rare pathology affecting 1-2% of under-40 year-old women, 1 in 1000 under-30 year-olds and 1 in 10,000 under-20 year-olds. There are multiple etiologies, which can be classified as primary (chromosomal, genetic, auto-immune) and secondary or iatrogenic (surgical, or secondary to chemotherapy and/or radiotherapy). Despite important progress in genetics, more than 60% of cases of primary POI still have no identifiable etiology; these cases are known as idiopathic POI. POI is defined by the association of 1 clinical and 1 biological criterion: primary or secondary amenorrhea or spaniomenorrhea of>4 months with onset before 40 year of age, and elevated follicle-stimulating hormone (FSH)>25IU/L on 2 assays at>4 weeks' interval. Estradiol level is low, and anti-Müllerian hormone (AMH) levels have usually collapsed. Initial etiological work-up comprises auto-immune assessment, karyotype, FMR1 premutation screening and gene-panel study. If all of these are normal, the patient and parents may be offered genome-wide analysis under the "France Génomique" project. The term ovarian insufficiency suggests that the dysfunction is not necessarily definitive. In some cases, ovarian function may fluctuate, and spontaneous pregnancy is possible in around 6% of cases. In confirmed POI, hormone replacement therapy is to be recommended at least up to the physiological menopause age of 51 years. Management in a rare diseases center may be proposed., (Copyright © 2021. Published by Elsevier Masson SAS.)