Endocrine Abstracts

Background: Girls and women with Turner Syndrome (TS) are commonly estrogen deficient, and may also be affected by conditions that have been suggested as increasing risk for severe infection with COVID.Objective: To determine the self-reported experience of COVID19 in girls/women with Turner syndromeDesign: Anonymous self-completed website survey (UK TSSS) and analysis of submitted dataPopulation: 49 people; ...

The British Society for Paediatric Endocrine and Diabetes (BSPED) published guidance in 2016 on optimal Hormonal Replacement Therapy (HRT) for pubertal induction in Turner Syndrome (TS). Transdermal preparations of oestrogen are the most appropriate method of oestrogen delivery in TS, as it avoids first pass metabolism of the liver, and thereby does not exert a meaningful effect on blood pressure.Objective: To assess change in prescribing practice in acc...

In 2019, we attended a patient engagement zoom session, hosted by Turner Syndrome Support Society (TSSS), to launch a video illustrating the use of a transdermal patch for pubertal induction in girls with Turner Syndrome (TS). Several girls raised to us that they felt that they did not have a good understanding of puberty, and on why it was important to receive both oestrogen and progesterone preparations during pubertal induction. To target this, we developed an explanatory v...

Context: Turner syndrome (TS) is associated with short stature, delayed puberty, primary ovarian insufficiency, infertility, and other features. The majority of girls with TS require pubertal induction and life-long oestrogen replacement therapy. There is paucity of data in adult TS on the efficacy of pubertal induction, such as breast satisfaction. Patient-related outcome measures (PROMs) assess the quality of care and treatment from the patient’s perspective. We have em...

Due to decreasing ovarian reserve from young age, counselling is vital as chances to conceive spontaneously decrease rapidly and early consideration of fertility options essential. Maternal/fetal-risks are high and patients/specialists face important considerations.Aim: Service-evaluation of adequacy/appropriateness/sufficiency of information about fertility provided to TS patients.Methods: TS women attending two TS-dedicated-centr...

Turner Syndrome (TS) affects 1:2500 females and is caused by the partial or complete loss of one X chromosome. About 80% of women with TS experience primary amenorrhea and therefore the only option for fertility treatment is ovum donation (OD). The remaining 20% may have the opportunity for a spontaneous pregnancy. Pregnancy in women with TS has been associated with excess obstetric risk such as miscarriage and hypertension. Maternal mortality has been estimated to be 2% risk ...

Background: Registries are of key importance for a centre of expertise. Endo-ERN consists of 71 reference centres (RCs) that cover several groups of rare endocrine conditions within 8 themes (www.endo-ern.eu). It is unclear if awareness, participation and availability of registries is uniform for all conditions within Endo-ERN.Objective: To determine the extent of engagement in registries of Endo-ERN members.Methods: Endo-ERN RC le...