Endocrine Abstracts

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 ...

The high morbidity and mortality rate of women with Turner syndrome (TS) is primarily a results of the cardiovascular complications and so it is necessary an accurate and precocious diagnosis of this disease. Congenital cardiac anomalies, whose causes remains unknown, are common in TS (21–40%), in particular among patients with 45 X; between these the ventricular septal defect (VSD) is very rare (in a recent review, 3/1092 cases) (Gravholt 2004) and so in neonatal with VS...

Introduction: Diabetes mellitus (DM) develops early in Turner syndrome (TS) and appears not related to common risk factors. The precise mechanism of its development is still a matter of debate: a defective insulin response seems to be involved, but the role of incretins is still undefined.Objective: To evaluate the implication of incretin release in the early stages of DM development in TS. Materials and Methods: 153 Turner patient...

Background: The psychopathology of children and young people with Turner Syndrome (45,X; TS) has been well-documented. But these studies have never assessed neurodevelopmental disorders (NDD; autistic/attention-hyperactivity) alongside emotional and conduct disorders. The last extensive study of mental health assessed a narrow range of psychopathologies and excluded under 16s. This study aims to comprehensively examine mental health, NDD and social skills in TS from childhood ...