Genetic Etiology in Premature Ovarian Insufficiency

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

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Primary Ovarian Insufficiency Adnexal Diseases Disease Attributes Disease Susceptibility Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Predisposition to Disease Genital Diseases Genital Diseases, Female Gonadal Disorders Ovarian Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Urogenital Diseases

Age range

20 year–40 year

Sex eligibility

Female

Study type

Observational

Primary location

Istanbul University Cerrahpasa Medical school Obstetrics department

Istanbul, Turkey (Türkiye)

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

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.

Sponsors and collaborators

Lead sponsor

BEGUM AYDOGAN

Other

Collaborators

Istanbul University

Registry information

Acronym: POI

Important dates

Study start: 2013
Primary completion: 2016
Study completion: 2017
First posted: Oct 31, 2013
Registry last updated: Aug 11, 2017

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed