Genetic Etiology in Premature Ovarian Insufficiency

Completed

• Conditions: Primary Ovarian Insufficiency; Genetic Predisposition to Disease

• Registration Number: NCT01973075
• Lead Sponsor: BEGUM AYDOGAN

Brief Summary

Premature Ovarian Insufficiency (POI), first described by Albright in 1942, is defined as an increase in Follicle Stimulating Hormone (FSH), an insufficiency of the ovarian function leading to an early menopause (\<40 years of age).Today, only 35% of POI's etiology can be explained. Causes enlightening POI may be enumerated as follows, according to their frequency: genetic mutations, autoimmune defects and abnormalities detected on the X chromosome.The purpose of the study is to determine the frequency of the genetic abnormalities and polymorphisms described above in the POI Turkish population

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2013-10-20
• Study First Submitted QC: 2013-10-24
• Study First Posted: 2013-10-31
• Study Start: 2013-11
• Primary Completion: 2016-04
• Study Completion: 2017-04
• Status Verified: 2017-08
• Last Update Submitted: 2017-08-09
• Last Update Posted: 2017-08-11

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Female
• Target Recruitment: 100

Inclusion Criteria

• Clinical diagnosed premature ovarian failure patients
• 20-40 years old female patients

Exclusion Criteria

• Surgical surgical menopause
• Female patients who can't meet the age range criteria

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Genetic etiology in Premature ovarian Insufficiency	up to 1 year	In the framework of our project, abnormalities on the X chromosome will be studied by karyotyping, follicle-stimulating hormone receptor (FSHR),nuclear receptor subfamily 5,group A,member 1 (NR5A1),Newborn ovary homeobox gene (NOBOX),Bone morphogenetic protein 15 (BMP15) genes will be analyzed by sequencing and finally repeat size analysis for FMR1 gene will be performed fragment analyses, on 75 POI and 25 healthy control population.Collected data will enable us to determine the frequency of the abnormalities and polymorphisms described above in the POI Turkish population. Patients free of those genetic variants will help us to identify new loci or genes implicated in POI.

Trial Locations

Locations (1)

Istanbul University Cerrahpasa Medical school Obstetrics department; 🇹🇷 Istanbul, Turkey