Genetic Etiology in Premature Ovarian Insufficiency

Genetic Predisposition to Disease Clinical Trial

— POI  

Official title:

Genetic Etiology in Premature Ovarian Insufficiency

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01973075
• Other study ID #: 22547
• Status: Completed
• Phase: N/A
• First received: October 20, 2013
• Last updated: August 9, 2017
• Start date: November 2013
• Est. completion date: April 2017

Study information

• Verified date: August 2017
• Source: Sisli Etfal Training & Research Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 100
• Est. completion date: April 2017
• Est. primary completion date: April 2016
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Female
• Age group: 20 Years to 40 Years

Eligibility

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

Related Conditions & MeSH terms

• Disease Susceptibility
• Genetic Predisposition to Disease
• Gonadal Dysgenesis
• Premature Birth
• Primary Ovarian Insufficiency
• Turner Syndrome

Locations

Country	Name	City	State
Turkey	Istanbul University Cerrahpasa Medical school Obstetrics department	Istanbul

Sponsors (2)

Lead Sponsor	Collaborator
BEGUM AYDOGAN	Istanbul University

Country where clinical trial is conducted

Turkey, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Genetic etiology in Premature ovarian Insufficiency	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.	up to 1 year