Clinical trial NCT04746053: Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene (GYN-HNF1)
Official title: Study of Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene (GYN-HNF1)
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Genital Diseases, Female
Keywords: gene HNF1b mutation
ovarian function
genital malformations
Lead sponsor: University Hospital, Toulouse
Sponsor class: OTHER
First posted: 2021-02-09
Enrollment: 26
Sex: FEMALE
Minimum age (years): 12
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: OTHER

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.

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

Primary outcomes:
measure: serum level of Antimullerian Hormone levels
timeFrame: day 1
Secondary outcomes:
measure: ultrasound result
timeFrame: day 1
Other outcomes:
Locations:
city: Paris
country: France
facility: Pitié Salpêtrière Hospital -
city: Paris
country: France
facility: Necker Hospital
city: Toulouse
country: France
facility: Toulouse University Hospital
Study officials:
affiliation: University Hospital, Toulouse
name: Catherine PIENKOWSKI, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Edghill EL, Bingham C, Ellard S, Hattersley AT. Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet. 2006 Jan;43(1):84-90. doi: 10.1136/jmg.2005.032854. Epub 2005 Jun 1.
citation: Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Hum Mol Genet. 1999 Oct;8(11):2001-8. doi: 10.1093/hmg/8.11.2001.
citation: Oram RA, Edghill EL, Blackman J, Taylor MJ, Kay T, Flanagan SE, Ismail-Pratt I, Creighton SM, Ellard S, Hattersley AT, Bingham C. Mutations in the hepatocyte nuclear factor-1beta (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations. Am J Obstet Gynecol. 2010 Oct;203(4):364.e1-5. doi: 10.1016/j.ajog.2010.05.022. Epub 2010 Jul 15.