Endocrine Abstracts

Introduction: Aortic dilation (AD) is the life threating complication of Turner syndrome (TS). The reported prevalence of AD in TS various between 12 and 39%. Factors predicting enlargement of diameter of aorta (DA) are still under investigation.Aim: To assess the prevalence of AD in TS in Lithuanian population, to evaluate the possible predictors of AD development.Methods: Forty-three patients with TS aged ≥18 year were enro...

Introduction: Turner syndrome (TS) is a chromosomal aberration with a total or partial loss of one of the two X chromosomes, occurring in 1/2000–1/2500 newborn girls. Primary ovarian insufficiency is a classic feature of this syndrome. Therefore, fertility preservation is proposed to girls or adolescents with TS. So far, no pregnancy has been reported in TS women after ovarian or oocyte freezing. The aim of our study was to evaluate the prevalence and the outcome of spont...

Introduction: Turner’s syndrome (TS) affects 1/2500 female births and it is characterized by growth retardation, dysmorphic syndrome and gonadal dysgenesis. Our objective was to describe the clinical, therapeutic and evolutive features of Tunisian patients with TS.Patients and Methods: It was a retrospective study including 23 patients with TS diagnosed between 1993 and 2019.We noted clinical, therapeutic and evolutive data for each patient.<p ...

Introduction: Middle ear disease in Turner syndrome (TS) is common, often resulting in troublesome temporary hearing loss, and more rarely to serious suppurative disease with cholesteatoma formation. We have examined the prevalence and pattern of middle ear disease in our TS clinic in relation to age and karyotype.Methods: Case note review of all girls with TS attending clinic 1989–2012, scoring the most serious middle ear problem for each as: none ...

Objective: QT interval prolongation of unknown aetiology is common in Turner syndrome (TS). This study set out to explore the presence of known pathogenic long QT (LQT) mutations in TS and to examine the corrected QT interval (QTc) over time and relate the findings to the TS phenotype.Methods: Adult females with TS (n=102) were examined thrice with a mean follow-up of 4.7±0.5 years, and 68 age-matched healthy controls were examined once. QT...

Spontaneous puberty occurs in a subset of Turner syndrome (TS) patients with significant 45,X/46,XX mosaicism. This observation leads to the belief that haploinsufficiency of still unidentified genes on the X chromosome is the cause of the accelerated follicle atresia in TS. Examination of particular X chromosome rearrangements/deletions led to the identification of 2 Xq and 1 Xp loci associated to the ovarian defect in TS. The availability of new generation genetic and cytoge...

Introduction: The age range at diagnosis, complexity of the syndrome and the sensitive and emotional nature of the issues involved in a diagnosis of Turner Syndrome (TS) present specific challenges for health professionals in sharing information with girls and their families. However little is known about the perceived information needs of parents and there has been no study of the views of girls with TS.Methods: A qualitative design was employed to expl...

Introduction: Ischaemic heart disease occurs seven times more frequently in women with Turner syndrome (TS) than the normal population. Adult TS subjects have raised serum cholesterol (Ch). In our service we measure Ch, apolipoprotein A1 (APA) and B (APB) annually in TS patients aged >5 years as APB:APA in childhood is a strong predictor of cardiovascular risk in adult life. Little is known about lipid profiles or the effects of GH or oestrogen (E2) in childhood...

The individual development of patients with Turner’s syndrome (TS) is determined by the illness from the moment of diagnosis. The aim of the study was to determine life quality (QL) of TS patients and their concept of health.Patients and methods: Twenty-six TS patients aged 18–25 who experienced many years of treatment. R L Schaloc, K D Keith Life Quality Questionnaire was used to determine their QL. Their views on health were analyzed on the b...

Women with Turner’s syndrome (TS) have been reported to have 11.5% relative risk of type 1 diabetes mellitus (DM) and 4.3% relative risk of type 2 DM. However, it is now evident that the traditional categorisation of DM may not be appropriate in this condition as the defect of glucose homeostasis often presents in young non-obese women. In fact, the pattern of insulin secretion in TS seems more likely to be due to beta cells dysfunction or insufficiency, which is reminisc...