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Genetic Etiology in Premature Ovarian Insufficiency (POI)

This study has been completed.
Istanbul University
Information provided by (Responsible Party):
BEGUM AYDOGAN, Sisli Etfal Training & Research Hospital Identifier:
First received: October 20, 2013
Last updated: April 15, 2016
Last verified: April 2016
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 ]
    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

Enrollment: 100
Study Start Date: November 2013
Study Completion Date: April 2016
Primary Completion Date: April 2016 (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   (Adult)
Sexes 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
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Please refer to this study by its identifier: NCT01973075

Istanbul University Cerrahpasa Medical school Obstetrics department
Istanbul, Turkey
Sponsors and Collaborators
Istanbul University
Study Director: Engin Oral, Prof,OBGYN Istanbul University
  More Information

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: April 15, 2016

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

Additional relevant MeSH terms:
Premature Birth
Genetic Predisposition to Disease
Disease Susceptibility
Primary Ovarian Insufficiency
Gonadal Dysgenesis
Turner Syndrome
Obstetric Labor, Premature
Obstetric Labor Complications
Pregnancy Complications
Disease Attributes
Pathologic Processes
Ovarian Diseases
Adnexal Diseases
Genital Diseases, Female
Gonadal Disorders
Endocrine System Diseases
Disorders of Sex Development
Urogenital Abnormalities
Congenital Abnormalities
Sex Chromosome Disorders of Sex Development
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Sex Chromosome Disorders
Chromosome Disorders
Genetic Diseases, Inborn processed this record on May 25, 2017