ESPE2024 Poster Category 1 Sex Endocrinology and Gonads 1 (8 abstracts)
Study of the ovarian function and the gyneco-obstetrical profile of patients carrying a pathogenic variant of the HNF1B gene
Audrey Cartault 1,2 , Camille Paret 2 , Perrine Ernoult 2 , Charlotte Garczynski 2 , Da Costa Sabrina 3 , Zeina Chakhtoura 3 , Magali Viaud 3 , Celine MercierMilesi 2 & Catherine Pienkowski 2
1CHU Toulouse, Toulouse, France. 2Reference Center for Rares Gynecological Pathologies, Toulouse, France. 3Reference Center for Rares Gynecological Pathologies, Paris, France
Introduction: HNF1B belongs to the organogenesis gene family. HNF1B is a rare autosomal disorder affecting early embryonic development of the urogenital tract, liver, pancreas and parathyroids. It is responsible for kidney damage and MODY type diabetes. It affects the female genital tract with a prevalence of uterine malformations of about 20%. To date, no study has evaluated the ovarian function or the gyneco-obstetrical profile of these patients.
Objective: To evaluate the ovarian reserve and the gyneco-obstetrical profile of patients with an HNF1B anomaly.
Material and Methods: This is a pilot observational cohort study, coordinated by the CRMR of Rare Gynecological Pathologies of Toulouse (PGR Toulouse) and carried out in the CRMRs PGR of Paris Necker and Pitié salpétrière and of Rare Renal Diseases (MARHEA of Paris and SORARE of Toulouse University Hospital). The primary endpoint is the AMH level (ng/mL), the secondary endpoints are the antral follicular count and a data collection based on gynecological and obstetrical characteristics of the patients. After CPP approval (ID-RCB number: 2020- A02800-39), 26 /54 patients agreed to participate. They all underwent an AMH assay, a pelvic ultrasound and an interrogation based on their medical, gynecological and obstetrical history.
Results: 26 patients are aged 29 ± 13 years, all carrying an HNF1 anomaly with a deletion in 50% of cases. 38% of patients had an AMH <25th percentile for their age, unrelated to genetic, renal anomaly, Mody diabetes but a tendency with liver damage (P = 0.0159). 30% had a uterine malformation, and an increased frequency of obstetrical complications (threat of premature delivery, gestational cholestasis, gestational diabetes) and infertility was observed.
Conclusion: We have highlighted a population potentially at risk of decreased ovarian reserve, these data deserve to be confirmed by a larger study.
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