NCT04746053

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

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

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 26 (actual)
• Sponsor: University Hospital, Toulouse · Academic / Other
• Sex: Female
• Age: 12 Years
• Healthy volunteers: Not accepted

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.

Detailed 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.

Conditions

• Genital Diseases, Female

Interventions

Type	Name	Description
OTHER	Pelvic ultrasound	Pelvic or vaginal ultrasound
BIOLOGICAL	blood sample	blood sample (5ml)

Timeline

• Start date: 2021-04-12
• Primary completion: 2023-10-12
• Completion: 2023-10-12
• First posted: 2021-02-09
• Last updated: 2024-02-15

Locations

3 sites across 1 country: France