On Thursday September 9th at 15:00 – 16:00 CET an Endo-ERN webinar about “Update on the management of 46,XX Ovarian Dysgenesis and Primary Ovarian Insufficiency” will be given by Philippe Touraine from APHP-Pitié Salpêtrière Hospital in 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 webinar will be the opportunity to discuss the clinical management of POI patients and the different genetic strategies to be proposed.

In the context of EJP RD’s ERN Workshops, a face-to-face workshop on clinical epidemiological research for ERNs titled “Clinical Research: The Basics & Beyond” (consisting of presentations by experts in the field of epidemiology and a feedback session on the research projects of participants) is being organised by Prof. Olaf Dekkers and Prof. Frits Rosendaal of the Leiden University Medical Center.

The in-person event will take place over two days on 30th September and 1st October 2021 at the Hotel Golden Tulip Leiden Centre, Schipholweg 3, 2316 XB Leiden, the Netherlands.

The workshop is open by prior registration and selection to medical specialists affiliated to an ERN Full Member or Affiliated Partner institution and who have a special interest in clinical research with databases. Registration closes on 18th June 2021, and those selected to participate from among the applicants will be informed by 9th July 2021 of their selection.