Publications by authors named "P Touraine"
Article Synopsis
- - Premature ovarian insufficiency (POI) is a condition where women's ovaries stop functioning normally before age 40, leading to infertility and hormonal issues, marked by absent menstrual cycles and high follicle-stimulating hormone levels.
- - POI can be triggered by various factors, including medical treatments, genetic conditions, infections, and autoimmune diseases, affecting around 1 in 100 women, with a higher incidence before age 30.
- - Recent advances in genetic research have improved our understanding of POI, allowing for better diagnosis and potential treatment options, including oocyte preservation for those with a family history of the condition.
Article Synopsis
- - The treatment of classic congenital adrenal hyperplasia (CAH) focuses on hormone replacement and managing androgen levels, but complications and increased mortality remain prevalent even with early diagnosis and ongoing therapy.
- - An extensive review of literature revealed conflicting data on cardiometabolic risks in CAH patients compared to other adrenal insufficiencies, with various studies indicating risks such as weight gain, insulin resistance, high blood pressure, and cardiovascular issues.
- - The increased cardiometabolic risk in individuals with classic CAH seems to stem from factors including glucocorticoid overtreatment, inadequate hormone therapy, and hormonal imbalances, highlighting the need for targeted future studies on new treatment strategies.
Background: Primary ovarian insufficiency (POI) affects around 2-4% of women before the age of 40. Genetic factors play an important role in POI. The GDF9 gene has been identified as a significant genetic contributor of POI.
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- Prednisolone and prednisone are common treatments for adults with congenital adrenal hyperplasia (CAH), but there hasn't been a direct comparison with hydrocortisone until this study.
- The study was a six-month open-label randomized phase 3 trial, where patients either continued on prednis(ol)one or switched to modified-release hydrocortisone capsules (MRHC).
- Results showed that MRHC significantly reduced levels of 17-hydroxyprogesterone (17OHP) compared to prednis(ol)one, with a majority of patients able to decrease their MRHC dosage over time and fewer experiencing adrenal crises.
Premature ovarian insufficiency is a common form of female infertility affecting up to 4% of women and characterised by amenorrhea with elevated gonadotropin before the age of 40. Oocytes require controlled DNA breakage and repair for homologous recombination and the maintenance of oocyte integrity. Biallelic disruption of the DNA damage repair gene, Fanconi anemia complementation group A (FANCA), is a common cause of Fanconi anaemia, a syndrome characterised by bone marrow failure, cancer predisposition, physical anomalies and POI.
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