Genetic Etiology in Premature Ovarian Insufficiency

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01973075

Acronym

POI

Enrollment

100

Registered

2013-10-31

Start date

2013-11-30

Completion date

2017-04-30

Last updated

2017-08-11

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Genetic Predisposition to Disease, Primary Ovarian Insufficiency

Keywords

Premature Ovarian Insufficiency (POI)

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

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

FEMALE

Age

20 Years to 40 Years

Healthy volunteers

Yes

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

Design outcomes

Primary

Measure	Time frame	Description
Genetic etiology in Premature ovarian Insufficiency	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.

Countries

Turkey (Türkiye)

Outcome results