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59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

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The 59th ESPE Annual Meeting will now be held online in September 2021.


Epigenetics and Genetics in Endocrine Disorders

hrp0094s12.1 | Epigenetics and Genetics in Endocrine Disorders | ESPE2021

Epigenetics, imprinting and growth

Temple I Karen ,

Human imprinting disorders are congenital disorders of growth, development and metabolism, associated with disturbance of gene dosage at imprinted loci across the genome. Causes of disease include point mutations, structural variants, uniparental disomy and ‘epimutations’ with a parent of origin specific effect. Further complexity underlies the causes of the epigenomic errors that may be the result of genetic and environmental factors at different times during the de...

hrp0094s12.2 | Epigenetics and Genetics in Endocrine Disorders | ESPE2021

The role of genetic analysis in primary ovarian failure

Touraine Philippe ,

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 cardiova...