Genetic Etiology in Premature Ovarian Insufficiency

NCT01973075 | Completed

• 1 other identifier: 22547
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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

Conditions

Genetic Predisposition to Disease; Primary Ovarian Insufficiency

Keywords

Premature Ovarian Insufficiency (POI)

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (2)

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

Eligibility Criteria

• Age: 20 Years - 40 Years
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Probability Sample

Study Population

patients who are admitted to obstetrics and gynecology department

You may qualify if:

• Clinical diagnosed premature ovarian failure patients
• years old female patients

You may not qualify if:

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

Sponsors & Collaborators

• BEGUM AYDOGAN: lead
• Istanbul University: collaborator

Study Sites (1)

Istanbul University Cerrahpasa Medical school Obstetrics department

Istanbul, Turkey (Türkiye)

Location

Biospecimen

Retention: SAMPLES WITH DNA

4ml whole blood sample

MeSH Terms

Conditions

Primary Ovarian Insufficiency; Genetic Predisposition to Disease

Condition Hierarchy (Ancestors)

Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases; Gonadal Disorders; Endocrine System Diseases; Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Engin Oral, Prof,OBGYN

  Istanbul University

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Target Duration: 6 Months
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: MD,OBGYN

Study Record Dates

• First Submitted: October 20, 2013
• First Posted: October 31, 2013
• Study Start: November 1, 2013
• Primary Completion: April 1, 2016
• Study Completion: April 1, 2017
• Last Updated: August 11, 2017

Record last verified: 2017-08

Locations

TU (1)