Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene (GYN-HNF1)
NCT04746053 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 26
Last updated 2024-02-15
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.
Conditions
- Genital Diseases, Female
Interventions
- OTHER
-
Pelvic ultrasound
Pelvic or vaginal ultrasound
- BIOLOGICAL
-
blood sample
blood sample (5ml)
Sponsors & Collaborators
-
University Hospital, Toulouse
lead OTHER
Principal Investigators
-
Catherine PIENKOWSKI, MD · University Hospital, Toulouse
Study Design
- Allocation
- NA
- Purpose
- OTHER
- Masking
- NONE
- Model
- SINGLE_GROUP
Eligibility
- Min Age
- 12 Years
- Sex
- FEMALE
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2021-04-12
- Primary Completion
- 2023-10-12
- Completion
- 2023-10-12
Countries
- France
Study Locations
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