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

Genital Diseases, Female Clinical Trial

— GYN-HNF1  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04746053
• Other study ID #: RC31/20/0124
• Secondary ID: 2020-A02800-39
• Status: Completed
• Phase: N/A
• Start date: April 12, 2021
• Est. completion date: October 12, 2023

Study information

• Verified date: February 2024
• Source: University Hospital, Toulouse
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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 information / eligibility

• Status: Completed
• Enrollment: 26
• Est. completion date: October 12, 2023
• Est. primary completion date: October 12, 2023
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 12 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Genital Diseases, Female

Intervention

Other:
• Pelvic ultrasound
Pelvic or vaginal ultrasound

Biological:
• blood sample
blood sample (5ml)

Locations

Country	Name	City	State
France	Necker Hospital	Paris
France	Pitié Salpêtrière Hospital -	Paris
France	Toulouse University Hospital	Toulouse

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Toulouse

Country where clinical trial is conducted

France, 

References & Publications (3)

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. — View 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. — View 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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	serum level of Antimullerian Hormone levels	serum level of antimullerian hormone levels in ng/mL	day 1
Secondary	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