Endocrine Abstracts

Background: TS, resulting from partial or complete loss of an X-chromosome, is a rare diagnosis1. In addition to its well-described phenotypic features2, a number of multi-systemic conditions may develop over the lifespan of a Turner female that require long-term surveillance which is challenging to deliver in today’s ‘specialised’ services NHS.Aim: To evaluate UHL service provision against the only guidelines for the...

Problem: Programs for adolescents with Turner syndrome (TS) are currently based on evidence derived from medical surveillance or parental and teacher perceptions. Little is known about how personal perceptions in this population influence behavior and psychosocial outcomes. Facing issues associated with puberty and young adulthood, such as body image, relationships, and careers, can be more challenging when living with TS.Framework: Unlike frameworks for...

Turner’s syndrome (TS) is one of the more common genetic disorder, occurring in about 50 per 100.000 live-born girls. TS is caused by complete or partial X chromosome monosomy in a phenotypic female, and it is associated with increased morbidity and mortality for cardiovascular diseases, impaired glucose tolerance and dyslipidemia. In order to examine the metabolic and cardiovascular profile, in 30 adult TS patients under hormonal replacement therapy (HRT), 17β-estra...

Though results of scientific studies are rather controversial, it is known that adults with growth hormone deficiency (GHD) and Turner syndrome (TS) experience disturbances in psychological well-being and quality of life. Results of our previous studies confirm that quality of life and emotional state are worse in adult patients with adult-onset, childhood-onset GHD and TS than in age- and sex-matched controls.Aim: The aim of the study was to compare qua...

Background: Several studies have documented an altered body composition in Turner syndrome (TS), a model of premature ovarian failure. Body fat is increased and muscle mass is decreased. The ovarian failure necessitates substitution with female hormone replacement therapy (HRT) for a number of years, and HRT induces favourable changes in body composition with a decrease in body fat and an increase in fat free mass. It is unknown how HRT affects protein metabolism.<p class=...

Background and Aim: Turner’s syndrome (TS) or 45 XO is a condition in which a female is partly or completely missing an X chromosome. TS affects 0.025–0.05% of females and can involve multiple organs through all stages of life, necessitating a multidisciplinary approach to care. We aim to evaluate our practice compared to the clinical practice guidelines, which recommends the following: annual BMI, blood pressure, HbA1c, lipid profile, liver function, thyroid functio...

Background: Turner syndrome (45,X; TS) and Klinefelter syndrome (47,XXY; KS) present with a range of clinical features due to copy number aberrations of the X chromosome. The underlying genetics of these syndromes have revealed karyotype-dependent transcription and methylation patterns, and implicated genes that escape X chromosome inactivation (XCI). Alterations in the expression pattern of non-coding RNAs has previously been reported in TS and KS, yet the landscape of circul...

Background: The Turner Syndrome Life Course Project, UCLH, has collected data on 810 women with TS, attending clinic for 20 years and has accumulated over 8000 clinic visits. We present an analysis of the effects of timing and type of exogenous oestrogen on health outcomes in adults.Methods: A cross- sectional analysis of 475 subjects with primary amenorrhoea with accurate age of pubertal induction data was performed using correlation coefficients contro...

Background: The Turner Syndrome Life Course Project, UCLH, has collected data on 810 women with TS, attending clinic for 20 years and has accumulated over 8000 clinic visits. We present an analysis of the effects of timing and type of exogenous oestrogen on health outcomes in adults.Methods: A cross- sectional analysis of 475 subjects with primary amenorrhoea with accurate age of pubertal induction data was performed using correlation coefficients contro...

A 41-year-old woman with primary ovarian failure secondary to Turner syndrome presented in December 2020 with heavy vaginal bleeding. She had not attended appointments during the Covid-19 epidemic because of concerns around contracting the virus. She was anaemic with haemoglobin 47g/dl. Ultrasound showed grossly thickened and heterogenous endometrium (60 mm). Cross sectional imaging and hysteroscopy confirmed locally advanced endometrial carcinoma (Stage 3). She proceeded to h...