Searchable abstracts of presentations at key conferences in endocrinology

ea0077p245 | Reproductive Endocrinology | SFEBES2021

COVID19 in Turner Syndrome; results of a self-completed website survey

Turner Helen , Smyth Arlene

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; ...

ea0085oc10.1 | Oral Communications 10 | BSPED2022

Hormone replacement therapy in paediatric turner syndrome – evaluation of current practice in a dedicated paediatric turner clinic and subsequent development of patient resources

Mackie Gabriella , Smyth Arlene , Mason Avril

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...

ea0085p72 | Miscellaneous 2 | BSPED2022

Evaluation of an educational intervention on puberty/pubertal induction in adolescent girls with turner syndrome

Mackie Gabriella , Smyth Arlene , Mason Avril

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...

ea0078p33 | Gonadal, DSD and Reproduction | BSPED2021

Breast Satisfaction in adult women with Turner Syndrome – an international survey employing the BREAST-Q questionnaire

Idkowiak Jan , Smyth Arlene , Mundy Lily , Thorby-Lister Amy , Tsangaris Elena , Klaassen Anne , Nightingale Peter , Gleeson Helena , Hogler Wolfgang

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 patientÂ’s perspective. We have em...

ea0065p372 | Reproductive Endocrinology and Biology | SFEBES2019

Turner syndrome and fertility discussion: food for thought from patients

Calanchini Matilde , Joshi Rashi , Cameron-Pimblett Antoinette , Smyth Arlene , Conway Gerard S , Gleeson Helena , Turner Helen E

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...

ea0059p197 | Reproduction | SFEBES2018

Reproductive Life Course Project: Preliminary data from UK Turner Syndrome Pregnancy audit

Burt Elizabeth , Pimblett Antoinette Cameron , Donohoe Mollie , Calanchini Matilde , Morton Claire , Smyth Arlene , Brooke Antoinia , Gleeson Helena , Simpson Helen , Turner Helen E , Davies Melanie C , Conway Gerard S

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 ...

ea0056p677 | Paediatric endocrinology | ECE2018

Awareness & participation in rare disease registries within the European reference network on rare endocrine conditions (Endo-ERN)

Ali Salma R , Bryce Jillian , Cools Martine , Korbonits Marta , Beun Johan G , Taruscio Domenica , Beuschlein Felix , Danne Thomas , Dattani Mehul , Dekkers Olaf , Linglart Agnes , Netchine Irene , Nordenstrom Anna , Patocs Attila , Persani Luca , Smyth Arlene , Sumnik Zdenek , Edward Visser W , Hiort Olaf , Pereira Alberto M , Faisal Ahmed S

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 ( 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...