Publications by authors named "M Misrahi"
Study Question: How should premature/primary ovarian insufficiency (POI) be diagnosed and managed based on the best available evidence from published literature?
Summary Answer: The current guideline provides 145 recommendations on symptoms, diagnosis, causation, sequelae, and treatment of POI.
What Is Known Already: Premature ovarian insufficiency (POI) presents a significant challenge to women's health, with far-reaching implications, both physically and emotionally. The potential implications include adverse effects on quality of life; fertility; and bone, cardiovascular, and cognitive health.
Study Question: How should premature/primary ovarian insufficiency (POI) be diagnosed and managed, based on the best available evidence from published literature?
Summary Answer: The current guideline provides 145 recommendations on symptoms, diagnosis, causation, sequelae and treatment of POI.
What Is Known Already: Premature ovarian insufficiency (POI) presents a significant challenge to women's health, with far-reaching implications, both physically and emotionally. The potential implications include adverse effects on quality of life; fertility; and bone, cardiovascular and cognitive health.
Study Question: How should premature/primary ovarian insufficiency (POI) be diagnosed and managed, based on the best available evidence from published literature?
Summary Answer: The current guideline provides 145 recommendations on symptoms, diagnosis, causation, sequelae and treatment of POI.
What Is Known Already: POI presents a significant challenge to women's health, with far-reaching implications, both physically and emotionally. The potential implications include adverse effects on quality of life, on fertility and on bone, cardiovascular and cognitive health.
Article Synopsis
- Next-generation sequencing (NGS) has helped uncover genetic causes of primary ovarian insufficiency (POI), while the reasons for diminished ovarian reserve (DOR) are less understood.
- A 14-year-old patient with isolated DOR was found to have two frameshift mutations in the BRCA1 gene, but surprisingly showed no signs of Fanconi anemia (FA).
- Despite the absence of FA symptoms, the patient's cells exhibited high chromosomal fragility, and studies indicated a shortened version of the BRCA1 protein was produced, suggesting that BRCA1 is crucial for ovarian health and functioning.
Article Synopsis
- Diminished ovarian reserve (DOR) and primary ovarian insufficiency (POI) significantly contribute to female infertility, with a recent study finding a genetic cause in 29.3% of POI cases.
- A prospective study of 120 patients with unexplained DOR revealed a 24.2% diagnostic yield using advanced sequencing technology to identify genes related to various biological pathways.
- Findings indicated that impaired oocyte quality is linked to meiosis/DNA repair genes, and the study supports the need for genetic testing as a routine part of infertility diagnosis and a potential predictor for progression to POI.