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Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene (GYN-HNF1) — GYN-HNF1  

Genital Diseases, Female Clinical Trial

Official title:
Study of Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene (GYN-HNF1)

Clinical Trial Summary

The main objective of this study is to study the ovarian function of patients with hepatocyte nuclear factor-1beta (HNF1B) abnormality, followed in the reference centers of Toulouse and Paris University Hospitals. The secondary objectives are to know the gynecological profile of these patients. A dosage of anti-mullerian hormone (AMH) will be added to the usual balance, whatever the phase of the cycle and a pelvic ultrasound will be performed by the same operator by center. Patients will be received in a dedicated consultation to complete a questionnaire on gynecological and obstetric history, as well as their personal and family history. There will be no gynecological examination during this consultation.

Clinical Trial Description

HNF1B mutations can be responsible for genital malformations associated with renal development abnormalities. HNF1b is also a candidate gene involved in the development of the renal tract and the Mullerian system but there is no data in the literature regarding the ovarian function and clinical gynecological profile of these patients. The main objective of this study is to study the ovarian function of patients with HNF1B abnormality, followed in the reference centers of Toulouse and Paris University Hospitals. The secondary objectives are to know the gynecological profile of these patients. A dosage of AMH will be added to the usual balance, whatever the phase of the cycle and a pelvic ultrasound will be performed. Patients will be received in a dedicated consultation to complete a questionnaire on gynecological and obstetric history, as well as their personal and family history. There will be no gynecological examination during this consultation. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT04746053
Study type Interventional
Source University Hospital, Toulouse
Contact
Status Completed
Phase N/A
Start date April 12, 2021
Completion date October 12, 2023
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