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Case Report and a Brief Review on Fragile X Associated Premature Ovarian Insufficiency (FXPOI)

Year: 2023

Type: article

Abstract: Background: Primary ovarian insufficiency (POI) is a major cause of female infertility due to early loss of ovarian function and menopause before the age of 40 years. POI is highly heterogeneous with both genetic and nongenetic etiologies. Approximately 20% of POI women are carriers for FMR1 premutation CGG repeats Methods: FMR1 CGG repeat sizing is done by triplet primed repeat polymerase chain reaction. We report the case of a 25-year-old woman presenting with primary infertility carrying fragile X premutation. Conclusion: Genetic evaluation and counseling for fragile X syndrome in POI is very important for effective reproductive options.

Source: Apollo Medicine

DOI: 10.4103/am.am_67_23

Authors: Anitha Saminathan, Kalpana Gowrishankar, Indhumathi Nagarathinam

Institution: Apollo Hospitals

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4385753226

FWCI:

Cites: 9

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Related to: 10