Genetic Etiology in Premature Ovarian Insufficiency (POI)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01973075
Recruitment Status : Completed
First Posted : October 31, 2013
Last Update Posted : August 11, 2017
Istanbul University
Information provided by (Responsible Party):
BEGUM AYDOGAN, Sisli Etfal Training & Research Hospital

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

Condition or disease
Primary Ovarian Insufficiency Genetic Predisposition to Disease

Study Type : Observational [Patient Registry]
Actual Enrollment : 100 participants
Observational Model: Case-Control
Time Perspective: Cross-Sectional
Target Follow-Up Duration: 6 Months
Official Title: Genetic Etiology in Premature Ovarian Insufficiency
Study Start Date : November 2013
Actual Primary Completion Date : April 2016
Actual Study Completion Date : April 2017

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

Primary Outcome Measures :
  1. 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

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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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01973075

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

Responsible Party: BEGUM AYDOGAN, MD,OBGYN, Sisli Etfal Training & Research Hospital Identifier: NCT01973075     History of Changes
Other Study ID Numbers: 22547
First Posted: October 31, 2013    Key Record Dates
Last Update Posted: August 11, 2017
Last Verified: August 2017

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

Additional relevant MeSH terms:
Premature Birth
Disease Susceptibility
Genetic Predisposition to Disease
Primary Ovarian Insufficiency
Menopause, Premature
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