Endocrine Abstracts

Women with Turner Syndrome (TS) often feel well but require detailed screening for potential sequelae, which may impact on their quality of life, morbidity and mortality. They may also have psychological issues around living with the condition. It is our opinion that women with TS benefit from attending a specialised clinic and consequently an Adult TS Clinic (ATSC) was set up, however the opinion of the women attending such a service is not known. A survey was therefore condu...

Cardiovascular disease is the major cause of mortality in women with Turner Syndrome(TS), and may be congenital or acquired. There is a high prevalence of risk factors for ischaemic heart disease(IHD) including hypertension, dyslipidaemia, diabetes and obesity. This oestrogen dose-ranging vascular physiology study compared women with TS (n=14) and 46,XX gonadal dysgenesis(GD) (n=11) to determine the relative contributions of oestrogen deficiency and genetics, and to assess the...

Cardiovascular disease is the major cause of mortality in women with Turner Syndrome(TS), and may be congenital or acquired. There is a high prevalence of risk factors for ischaemic heart disease(IHD) including hypertension, dyslipidaemia, diabetes and obesity. This oestrogen dose-ranging vascular physiology study compared women with TS (n=14) and 46,XX gonadal dysgenesis(GD) (n=11) to determine the relative contributions of oestrogen deficiency and genetics, and to assess the...

IntroductionCardiovascular complications are the main cause of increased mortality in Turner Syndrome (TS). We have previously described a high prevalence of occult aortic dysmorphology in women with TS. The aim of this study was to introduce a classification system for the variety of appearances seen by magnetic resonance imaging (MRI).Method98 women (median age 29.0, range 18.1-64.2 years) underwent MRI scanning of the aorta. MRI appearances were correlated with ...

Turner's syndrome (TS) is the commonest sex chromosome abnormality in females. It is associated with impaired glucose tolerance and hepatic dysfunction. However a medline search for primary biliary cirrhosis (PBC) and TS shows only one previously reported case (Spanish literature).A 36 year old patient was referred to the diabetes center with poorly controlled type 2 diabetes on gliclazide 80 mgs daily (HbA1C 11.2%) and elevated alkaline phosphatase (AKP...

Introduction: Turner syndrome (ST) affects 1/2500–1/4000 of female births, its association with congenital malformations is traditional, however the coexistence of hypopituitarism is exceptional. In this context, we report 6 patients; including 3 belonging to the same family and in whom the association of anterior pituitary insufficiency (IAH) to a ST was confirmed.Results: The average age of our patients was 17.2 years (11–31). The ST was sele...

Introduction: The diagnosis of Turner Syndrome (TS) must be included in the differential diagnosis of all girls with short stature. Despite overall earlier diagnosisand treatment there remain patients with TS who present late with delayed puberty.Although growth hormone (GH) is known to increase final height (FH) in girls with TS, little evidence exists on treatment in late-presenting girls.Objective and hypothesis: To assess the effect of late GH treatm...

Aims: To assess factors associated with excess rates of fractures in women with Turner’s syndrome.Settings: Adult Turner Clinic.Outcome measures: Bone fracture history, oestrogen, growth hormone, oxandrolone and thyroxine therapies, anthropometry, calcium, vitamin D, parathyroid hormone and karyotype, hearing impairment, spinal bone mineral density (BMD). This study was approved by Ethical Committee.Resu...

Isochromosome Mosaic Turner Syndrome (IMTS) is a variant of Turner Syndrome (TS) characterized by cytogenetic profile of 1 or more additional cell lineages aside from 45,X, and the presence of a structurally abnormal X chromosome consisting of either two short or two long arms. IMTS is rare, with only 8–9% prevalence among women with TS based on international studies, and 15% of all TS in the Philippines. A 20 year old female came in due to amenorrhea and alopecia. Physic...

Background: Hypertension (HT) is common in adults with Turner Syndrome (TS) but less is known about HT in children with TS.Aim: To determine the frequency of HT in girls with TS in West of Scotland and to assess its association with clinical characteristics. Patients and methods Retrospective cross-sectional analysis of 126 girls with TS in the West of Scotland, with at least 2 clinic blood pressure (BP) measurements in the preceding 12 months. HT was de...