Genetic Etiology in Premature Ovarian Insufficiency (POI)

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

Study Overview

• Status: Completed
• Conditions: Genetic Predisposition to Disease; Primary Ovarian Insufficiency

• Study Type: Observational
• Enrollment (Actual): 100

Contacts and Locations

Study Locations

• Turkey
  • Istanbul, Turkey
    • Istanbul University Cerrahpasa Medical school Obstetrics department

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 20 years to 40 years (Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: Female

• Sampling Method: Probability Sample

Study Population

patients who are admitted to obstetrics and gynecology department

Description

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 Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
premature ovarian Insufficiency; 4ml whole blood sample is going to collect from premature ovarian Insufficiency group for the assessment of genetic abnormalities
healthy control group; 4 ml of whole blood is going to taken from healthy control group

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: BEGUM AYDOGAN
• Collaborators: Istanbul University
• Investigators: Study Director: Engin Oral, Prof,OBGYN, Istanbul University

Study record dates

Study Major Dates

• Study Start: November 1, 2013
• Primary Completion (Actual): April 1, 2016
• Study Completion (Actual): April 1, 2017

Study Registration Dates

• First Submitted: October 20, 2013
• First Submitted That Met QC Criteria: October 24, 2013
• First Posted (Estimate): October 31, 2013

Study Record Updates

• Last Update Posted (Actual): August 11, 2017
• Last Update Submitted That Met QC Criteria: August 9, 2017
• Last Verified: August 1, 2017

More Information

Terms related to this study

• Keywords: Premature Ovarian Insufficiency (POI)
• Additional Relevant MeSH Terms: Pathologic Processes; Endocrine System Diseases; Disease Attributes; Ovarian Diseases; Adnexal Diseases; Gonadal Disorders; Pregnancy Complications; Obstetric Labor Complications; Obstetric Labor, Premature; Premature Birth; Disease Susceptibility; Primary Ovarian Insufficiency; Menopause, Premature; Genetic Predisposition to Disease
• Other Study ID Numbers: 22547