Endocrine Abstracts

IntroductionTurner syndrome is a rare condition that affects only females. It results when one of the X chormoses is missing or partially missing. It can cause short height, ovarian failure, heart defects and other complications. It is an indication for growth hormone treatment. The aim of our study is to evaluate the statural growth over one year in turnerian patients treated with growth hormone.Materials and methods<p class="...

Introduction: Turner Syndrome (TS) is the most common chromosomal abnormality affecting phenotypic females. Short stature (SS) is one of the most consistent clinical features of TS, with consequent poor psychosocial outcomes. Management involves early diagnosis and administration of recombinant human growth hormone (rhGH). The cost of therapy however hampers treatment in resource-challenged regions. The objective of this presentation is to report the outcome and challenges of ...

Introduction: Turner Syndrome (TS) is associated with a higher overall morbidity and mortality than the general population, with respiratory diseases as one of the major causes. Haemophilus influenza type B (HiB) and pneumococcal (PC) vaccination can reduce morbidity and mortality, by alleviating the risk of respiratory diseases. All patients in the Newcastle Adult Turner Syndrome clinic who lack immunity to either HiB or PC at baseline receive vaccination in our TS clinic. Ho...

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...