Endocrine Abstracts

IntroductionTurner syndrome is a chromosomal abnormality linked to the total or partial absence of the X chromosome. Its prevalence is 1/2500 female newborns. It constantly associates a stature delay and ovarian failure, with an increased risk of various malformations. The objectives of this study are to show the importance of the cytogenetic study in the management of patients with delayed height and / or primary amenorrhea, and to search for a possible...

Introduction: Turner syndrome (TS) is one of the most common chromosomal abnormalities, characterized by systemic involvement and susceptibility to some disorders that begin or progress in adult life. These lead to an increase in morbidity and mortality and a decrease in quality of life. The aim of this study was to analyse the profile of women with TS, who are currently followed in endocrinology, regarding: karyotype, age, final height and weight, puberty and fertility, and m...

Introduction: Double aneuploidy involving both sex and autosomal chromosomes (chr) is very rare, Down–Turner syndrome being the most frequent. Fourty-seven cases of Down–Turner mosaicism have been reported, only nine with a karyotype containing Y chr (phenotype: seven male, two ambiguous genitals).Case report: We describe a girl affected with Down-Turner syndrome. The cytogenetic analysis on peripheral lymphocytes, performed 2 months after birt...

The higher risk of cardiovascular mortality in women with Turner Syndrome (TS) is partly related to their risk of aortic dissection, which causes death in 1: 50 women. Establishing factors which predict increased risk of aortic dissection is therefore of prime importance. Previous studies have suggested that multiple risk factors exist, notably coarctation, aortic root dilatation, bicuspid aortic valve and systemic hypertension.In this study we focused ...

Aims: Elevated liver function tests (↑LFTs) are frequent in Turner’s Syndrome (TS). The cause and clinical significance are unclear. The aim of this study was to analyse the association between ↑LFTs and a comprehensive panel of TS-related conditions, focusing on metabolic and cardiovascular diseases in order to further elucidate the pathophysiological mechanisms underlying this condition.Methods: We reviewed our adult TS cohort. LFTs we...

Introduction: Diabetes Mellitus (DM) is 2–4 times more common in Turner Syndrome (TS) than karyotype normal females. Diagnosis of DM in TS is usually based on age of presentation and insulin dependency without regard for DM- autoimmunity. Previous research has identified DM associations with the isochromosome and ring chromosome. However, only small numbers of diabetics have been included in reports so far. Here we present preliminary data on DM characterisation in TS.</p...

Introduction: The pathogenesis of short stature and growth failure in Turner syndrome (TS) is multifactorial, and includes low birthweight, ovarian failure and skeletal dysplasia. Although abnormalities of the GH-IGF1 axis are implicated, patients are not GH-deficient (GHD) and consequently non-GHD doses of GH are utilised ie. 45–50 μg/kg per day or 9.8 mg/m2 per week. Although initially used in GHD patients, IGF1 titration is increasingly being used in al...

Background: Many questions concerning Turner Syndrome (TS) remain unresolved, such as the long-term complications and, therefore, the optimal care setting for adults. Most controversials regard tumors. Very few data are available on thyroid carcinoma and no specific screening protocol of monitoring is advised in the current official guidelines. This long-term cohort study was primarily aimed at estimating the incidence and time to comorbid conditions along the life course, inc...

Introduction: The treatment with growth hormone (GH) plays an essential role in the Turner syndrome (TS) management. This study evaluated its efficacy in improving adult height (AH) and metabolic parameters.Material and methods: We retrospectively analysed auxological, biochemical, genetic and pharmacological parameters of 56 girls with confirmed TS. They were categorised according to their karyotype as X monosomy (62%), isochromosome (17%), X mosaicism ...

Individuals with Turner syndrome (TS) have an increased risk for congenital and acquired cardiovascular disease (23–50%). This results in increased morbidity and mortality throughout the TS lifespan. There is an increased prevalence of bicuspid aortic valve malformation, coarctatio of the aorta, elongation of the transverse aortic arch, and partial anomalous venous return. In addition, TS females may develop aortopathy that may result in clinically significant aortic dila...