ESPE Abstracts (2021) 94 S12.2

ESPE2021 Symposia Epigenetics and Genetics in Endocrine Disorders (2 abstracts)

The role of genetic analysis in primary ovarian failure

Philippe Touraine


Department of Endocrinology and Reproductive Medicine. Center for Rare Endocrine Disorders on Growth and Development. Center for Rare Gynecological Disorders. Sorbonne Université Medecine. Hôpital Pitié Salpêtriere, Paris, France.

Primary (premature) ovarian insufficiency (POI) is defined as a loss of ovarian activity before the age of 40, and is characterized by menstrual disturbances (amenorrhea or oligomenorrhea) with elevated gonadotropins (follicle-stimulating hormone [FSH] ≥ 25 IU/L) and low serum estradiol levels. The incidence of POI is around 1 per 100 women overall, and 1 per 1000 women under the age of 30 years. POI leads to infertility and an increased risk of osteoporosis and cardiovascular disease. Different mechanisms are known to be involved in the pathogenesis of POI: decreased primordial follicular pool at birth, accelerated follicular atresia, or a dysfunction of follicular growth. Several causes of POI have been identified, including autoimmunity or iatrogenic causes like chemotherapy or ovarian surgery. Some authors have also suggested environmental causes. Genetic disorders involved include not only Turner syndrome (4-5% of cases of POI) and FMR1 (Fragile X Mental Retardation type 1) gene premutation (3% to 15% of cases of POI), but also monogenic disorders (syndromic or non syndromic). Around 70% of cases remain unexplained, though some of these cases of idiopathic POI may be linked to genetic abnormalities. In recent years, new genetic screening techniques have identified genetic alterations that may be linked to POI. Many familial studies have identified mutations involved in POI, and a few cohort studies have described variants of candidate genes or copy number variants. The conference will be the opportunity to discuss the clinical management of POI patients and the different genetic strategies to be proposed.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

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