Endocrine Abstracts

Introduction and aim: Turner Syndrome (TS) is associated with a variety of morbidities affecting nearly every body system, and necessitates multidisciplinary management. To facilitate care, the International Turner Syndrome Consensus Group have drafted Clinical Practice Guidelines that were disseminated to ESE members in April 2017. The aim of this audit was to assess whether current management of adolescent and adult TS women in our care is in accordance wi...

Introduction: The adult Turner Syndrome (TS) clinic at UCLH has collected data on over 800 women, attending for up to 20 years comprising over 8000 clinic visits. Data from this cohort forms the Turner Life Course Project. This large dataset allows analysis of pathogenesis of common chronic conditions including diabetes mellitus (DM) and hypothyroidism. There is some debate about the classification of DM associated with TS, with an over representation of up to 11-fold of type ...

Introduction and aim: Turner Syndrome (TS) is associated with a variety of morbidities affecting nearly every body system, and necessitates multidisciplinary management. To facilitate care, the International Turner Syndrome Consensus Group have drafted Clinical Practice Guidelines that were disseminated to ESE members in April 2017. The aim of this audit was to assess whether current management of adolescent and adult TS women in our care is in accordance wi...

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...

Turner syndrome (TS) affects 25–50 per 100 000 females and can involve multiple organs through all stages of life, necessitating a multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted since their publication. These advances cover all specialty fields involved in the care of girls and women with TS. This new international guideline is based on an international effort that started with exploratory mee...

IntroductionWomen with Turner Syndrome have an increased prevalence of hearing loss. Conductive hearing loss (CHL) is thought to be caused by craniofacial abnormalities or defective mucociliary transport resulting in impaired middle ear ventilation, increased otitis media and tympanic perforations. Sensorineural hearing loss (SNHL) progresses with age, possibly due to premature aging. An adult population was assessed for the impact of childhood treatment...

IntroductionWomen with Turner Syndrome have an increased prevalence of hearing loss. Conductive hearing loss (CHL) is thought to be caused by craniofacial abnormalities or defective mucociliary transport resulting in impaired middle ear ventilation, increased otitis media and tympanic perforations. Sensorineural hearing loss (SNHL) progresses with age, possibly due to premature aging. An adult population was assessed for the impact of childhood treatment...

Introduction: Turner syndrome (TS), defined by the loss of X chromosome material, affecting 1/2500 females born. Associated with TS are a variety of comorbidities such as obesity and fatty liver disease, many of which increase in prevalence with age. The Turner Syndrome Life Course Project at UCLH has collected data on over 800 women over the last 20 years. Annual health surveillance in our adult TS clinic allows for screening for liver enzymes, such as Alanine Transaminase (A...

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...

Turner syndrome (TS) is a rare condition with a high frequency of aortic dilatation (AD) and a risk of aortic dissection. Our objective was to evaluate the characteristics of the aorta in patients with TS.Methods: Analyses of aortic walls were obtained during prophylactic aortic replacement. Histological description and measurement of a standardized media degenerative score (MDC) were performed. Cytogenetic analysis quantified the level of monosomy X in ...