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

Study Overview
=================
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.

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

Conditions
-----------------
Genital Diseases, Female

Intervention / Treatment
-----------------
* Other: Pelvic ultrasound
* Biological: blood sample


Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: 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). Exclusion Criteria: 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

Ages Eligible for Study
-----------------
Minimum Age: 12 Years

Sexes Eligible for Study
-----------------
Female

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Design Details

Primary Purpose: Other
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: patient with a mutation in the HNF1B gene<br>Patient with a mutation in the HNF1B gene and which are followed in the reference centers | Other: Pelvic ultrasound<br>* Pelvic or vaginal ultrasound<br>Biological: blood sample<br>* blood sample (5ml)<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| serum level of Antimullerian Hormone levels | serum level of antimullerian hormone levels in ng/mL | day 1 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| ultrasound result | ultrasound (pelvic or vaginal) will allow the team to look at whether or not there is a genital defect and the type of defect. | day 1 | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
gene HNF1b mutation, ovarian function, genital malformations