Genetic Etiology in Premature Ovarian Insufficiency (POI)

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2015 by Sisli Etfal Training & Research Hospital
Istanbul University
Information provided by (Responsible Party):
BEGUM AYDOGAN, Sisli Etfal Training & Research Hospital Identifier:
First received: October 20, 2013
Last updated: May 18, 2015
Last verified: May 2015
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

Primary Ovarian Insufficiency
Genetic Predisposition to Disease

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Case Control
Time Perspective: Cross-Sectional
Target Follow-Up Duration: 6 Months
Official Title: Genetic Etiology in Premature Ovarian Insufficiency

Resource links provided by NLM:

Further study details as provided by Sisli Etfal Training & Research Hospital:

Primary Outcome Measures:
  • Genetic etiology in Premature ovarian Insufficiency [ Time Frame: up to 1 year ] [ Designated as safety issue: No ]
    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.

Biospecimen Retention:   Samples With DNA
4ml whole blood sample

Estimated Enrollment: 100
Study Start Date: November 2013
Estimated Study Completion Date: December 2015
Estimated Primary Completion Date: November 2015 (Final data collection date for primary outcome measure)
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


Ages Eligible for Study:   20 Years to 40 Years
Genders Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
patients who are admitted to obstetrics and gynecology department

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01973075

Contact: begum aydogan, MD,OBGYN 905063025896

Istanbul University Cerrahpasa Medical school Obstetrics department Recruiting
Istanbul, Turkey
Contact: Engin Oral, Prof,OBGYN    00902124143000 ext 21414   
Sub-Investigator: begum aydogan, MD,OBGYN         
Principal Investigator: Engin Oral, Prof,OBGYN         
Sub-Investigator: Seher Basaran, Prof         
Sub-Investigator: Oya Uyguner, PROF         
Sponsors and Collaborators
Istanbul University
Study Director: Engin Oral, Prof,OBGYN Istanbul University
  More Information

No publications provided

Responsible Party: BEGUM AYDOGAN, MD,OBGYN, Sisli Etfal Training & Research Hospital Identifier: NCT01973075     History of Changes
Other Study ID Numbers: 22547 
Study First Received: October 20, 2013
Last Updated: May 18, 2015
Health Authority: Turkey: Ethics Committee

Keywords provided by Sisli Etfal Training & Research Hospital:
Premature Ovarian Insufficiency (POI)

Additional relevant MeSH terms:
Gonadal Dysgenesis
Primary Ovarian Insufficiency
Turner Syndrome
Disease Susceptibility
Genetic Predisposition to Disease
Adnexal Diseases
Cardiovascular Abnormalities
Cardiovascular Diseases
Chromosome Disorders
Congenital Abnormalities
Disease Attributes
Disorders of Sex Development
Endocrine System Diseases
Genetic Diseases, Inborn
Genital Diseases, Female
Gonadal Disorders
Heart Defects, Congenital
Heart Diseases
Ovarian Diseases
Pathologic Processes
Sex Chromosome Disorders
Sex Chromosome Disorders of Sex Development
Urogenital Abnormalities processed this record on February 10, 2016