Endocrine Abstracts

In Turner persons questionnaire surveys have identified quality of life, perception of health and education to be at a similar or higher level compared to the background population. To shed further light on these seemingly paradoxical findings in Turner persons we aimed to analyze various socio-economic parameters in Turner persons compared to an age-matched female background population.All diagnosed Turner syndrome women nationwide (n=977) were i...

Turner Syndrome (TS) is defined as the combination of characteristic physical features in phenotypic females and complete or partial absence of the second sex chromosome. Short stature is a constant clinical finding in patients with TS. We report the case of a 18 year old female with TS and normal stature. Primary amenorrhea was the reason for the first clinical presentation. Laboratory evaluation showed hypergonadotropic hypogonadism, low oestrogens and testosterone. A pelvic...

Introduction: The growth failure constant in turner syndrome is responsible for a spontaneous reduction in adult height with an average of 143 cm. Treatment with growth hormone has enhanced the stature prognosis.Aim: Studying the final size of turner patients who have completed their growth.Population, methodology: 40 patients became adult patients were assessed on linear growth. The following factors were studied: The age and size...

Until recently it was usual to discharge teenagers with TS to primary care once final height had been attained in the paediatric setting. It is now clear that adults with TS benefit from dedicated TS clinics in order to optimise health care for this commonly neglected group. In adult life there is a great deal of preventable morbidity in TS which lies within the endocrine remit: osteoporosis, hypothyroidism, obesity, diabetes, hyperlipidaemia and hypertension. Other disorders ...

Introduction: Turner syndrome (TS) is associated with specific physical features, as well as a particular neuropsychological profile and social and behavioral features. It is common practice in the case of TS to treat short stature with growth hormone preparations and to induce puberty with estrogens at an age as close to normal puberty as possible. Nevertheless results of some studies show that despite the treatment, some women with TS still experience psychosocial problems, ...

Introduction: 45,X karyotype is known to be related to more severe phenotype disorders, still comparative analysis of the karyotypes and phenotypes in Turner syndrome (TS) is difficult, even in the largest studies, mainly due to differences in patient‘s age and variability in the definition of clinical features (1). We aimed: to assess if monosomia in Turner syndrome patients is related to their cardiometabolic features.Methods: 75 females with conf...

Background: Turner syndrome (TS) is associated with significant morbidity and a reduction in life expectancy. National guidelines have been developed to support the management of adult patients with TS but little is known about their implementation. We therefore sought to compare the management of patients with TS seen within a single tertiary referral centre by endocrinology, either general-purpose or Turner-specific clinics (TSC), or by other specialties.<p class="abstex...

Background: Aortic dissection causes excess mortality in Turner syndrome, and this increased risk is associated with aortic dilation, congenital cardiovascular abnormalities, karyotype, and blood pressure. But risk factor identification is inadequate, and the natural course of aortopathy in Turner syndrome is poorly investigated.Design and methods: Prospective follow-up study in women with Turner syndrome (n=102, examined twice) and healthy age-ma...

Turner’s Syndrome is one of the most common chromosomal abnormalities found in 1 in 2500 live female births. Y chromosome material is detected in up to 6% of patients by karyotype, but with new technologies (DNA analysis), Y chrmosome sequences have been reported in 60% of patients. The presence of Y material has been associated with virilization and with the development of gonadal neoplasia.Aim: Determine the frequency of Y chromosome sequences in ...

Turner Syndrome is a chromosomal disorder, which affects approximately 1 in 2500 live female births. It is associated with significant morbidity throughout childhood, adolescence and into adulthood. Quality of life is reduced in a significant number of females with Turner Syndrome due to lack of focused health care particularly during the transition from paediatric to adult services. The purpose of this study was to assess the health status and well being of a cohort of young ...