Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene (GYN-HNF1)
NCT ID: NCT04746053
Last Updated: 2024-02-15
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
NA
26 participants
INTERVENTIONAL
2021-04-12
2023-10-12
Brief Summary
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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.
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Detailed Description
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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.
Conditions
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Study Design
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NA
SINGLE_GROUP
OTHER
NONE
Study Groups
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patient with a mutation in the HNF1B gene
Patient with a mutation in the HNF1B gene and which are followed in the reference centers
Pelvic ultrasound
Pelvic or vaginal ultrasound
blood sample
blood sample (5ml)
Interventions
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Pelvic ultrasound
Pelvic or vaginal ultrasound
blood sample
blood sample (5ml)
Eligibility Criteria
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Inclusion Criteria
* 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
* 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
12 Years
FEMALE
No
Sponsors
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University Hospital, Toulouse
OTHER
Responsible Party
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Principal Investigators
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Catherine PIENKOWSKI, MD
Role: PRINCIPAL_INVESTIGATOR
University Hospital, Toulouse
Locations
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Pitié Salpêtrière Hospital -
Paris, , France
Necker Hospital
Paris, , France
Toulouse University Hospital
Toulouse, , France
Countries
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References
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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.
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.
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.
Other Identifiers
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2020-A02800-39
Identifier Type: OTHER
Identifier Source: secondary_id
RC31/20/0124
Identifier Type: -
Identifier Source: org_study_id
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