Study of the ovarian function and gyneco-obstetrical profile of patients with an HNF1B abnormality

HNF1B variant is a rare autosomal dominant disease that affects the embryonic development of the urogenital system, the mullerian development, the liver, the exocrine and endocrine pancreas functions responsible for MODY 5 diabetes. The objective of this study was to evaluate the ovarian reserve and the gyneco-obstetric profile of patients with an HNF1B anomaly.

This was a pilot study coordinated by the Reference Centre of Rare Gynecological Pathologies (RGP). It was conducted in 3 hospital sites after agreement of the Reference Centres of Rare Renal Diseases. The primary endpoint was the serum AMH concentration, the secondary endpoint was the gyneco-obstetric characteristics of the patients.

26 of the 54 patients aged 29 ± 13 years agreed to participate. All are carriers of the HNF1 pathogenic variant with a deletion in 50% of cases. 38% of patients had an AMH level <25th percentile adjusted for age. No statistical significant association was observed with genetic, renal abnormality, or Mody diabetes. Their gynecological profile was comparable to general population. 42% had uterine malformation. Obstetric complications of threatened premature delivery, cholestasis of pregnancy were noted.

We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant. We highlighted the value of monitoring their ovarian reserve. Fertility preservation should be discussed on an individual basis. These data need to be confirmed by a larger study and a longitudinal follow up.