Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene (GYN-HNF1)
- Conditions
- Genital Diseases, Female
- Interventions
- Other: Pelvic ultrasoundBiological: blood sample
- Registration Number
- NCT04746053
- Lead Sponsor
- University Hospital, Toulouse
- Brief 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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- Female
- Target Recruitment
- 26
- Girls from 12 years of age carrying a pathogenic variant of the HNF1 B gene and monitored in the reference center for rare renal diseases
- Person affiliated or beneficiary of a social security scheme.
- Free, informed and written consent signed by the participant or her legal representative if a minor patient and the investigator (at the latest on the day of inclusion and before any examination required by the research).
- Woman unable to answer
- Pregnant or breastfeeding woman
- Refusal of participation by the patient or her legal representative
- Person under a protection system for adults (such as safeguard of justice, guardianship or curatorship)
- History of chemotherapy, radiotherapy, brachytherapy
- History of ovarian endometrium
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description patient with a mutation in the HNF1B gene blood sample Patient with a mutation in the HNF1B gene and which are followed in the reference centers patient with a mutation in the HNF1B gene Pelvic ultrasound Patient with a mutation in the HNF1B gene and which are followed in the reference centers
- Primary Outcome Measures
Name Time Method serum level of Antimullerian Hormone levels day 1 serum level of antimullerian hormone levels in ng/mL
- Secondary Outcome Measures
Name Time Method ultrasound result day 1 ultrasound (pelvic or vaginal) will allow the team to look at whether or not there is a genital defect and the type of defect.
Trial Locations
- Locations (3)
Pitié Salpêtrière Hospital -
🇫🇷Paris, France
Toulouse University Hospital
🇫🇷Toulouse, France
Necker Hospital
🇫🇷Paris, France