Endocrine Abstracts

The high morbidity and mortality rate of women with Turner syndrome (TS) is primarily a results of the cardiovascular complications and so it is necessary an accurate and precocious diagnosis of this disease. Congenital cardiac anomalies, whose causes remains unknown, are common in TS (21–40%), in particular among patients with 45 X; between these the ventricular septal defect (VSD) is very rare (in a recent review, 3/1092 cases) (Gravholt 2004) and so in neonatal with VS...

Introduction: Diabetes mellitus (DM) develops early in Turner syndrome (TS) and appears not related to common risk factors. The precise mechanism of its development is still a matter of debate: a defective insulin response seems to be involved, but the role of incretins is still undefined.Objective: To evaluate the implication of incretin release in the early stages of DM development in TS. Materials and Methods: 153 Turner patient...

Background: The psychopathology of children and young people with Turner Syndrome (45,X; TS) has been well-documented. But these studies have never assessed neurodevelopmental disorders (NDD; autistic/attention-hyperactivity) alongside emotional and conduct disorders. The last extensive study of mental health assessed a narrow range of psychopathologies and excluded under 16s. This study aims to comprehensively examine mental health, NDD and social skills in TS from childhood ...

Background: Increased adiposity and insulin resistance are conditions frequently observed nowadays. Many hormones are involved in the pathogenesis of the condition but therapeutic options we can offer to the patients are still scant. Each newly discovered peptide give us hope. Adropin (Ad) is a newly discovered metabolic hormone involved in energy homeostasis. This homeostasis is frequently disturbed in patient with Turner Syndrome (TS). Patient with Turner syndrome are unique...

Objective: The risk of aortic dissection is 100-fold increased in Turner syndrome (TS). Increased blood pressure (BP) and heart rate is present as well as an increased risk of ischemic heart disease and diabetes. This study aimed to prospectively assess heart rate variability (HRV) in TS and its relation to aortic dimensions.Methods: Adults with TS (n=91, aged 37.4±10.4 years) recruited through the Danish National Society of Turner Syndrome...

Previous work (Bath et al. 2001) has shown that while pubertal induction in Turner syndrome (TS) is fairly standard, post-induction oestrogen replacement is more variable. To identify current practice and to inform the design of two proposed randomised controlled trials (RCTs), a questionnaire was devised on behalf of the British Society for Paediatric Endocrinology and Diabetes for its members, members of the British Society for Paediatric and Adolescent Gynaecology and clini...

Background: Cardiovascular related deaths account for over 40% of the excess mortality in Turner Syndrome (TS). Hypertension, a modifiable risk factor for both aortic dilatation and dissection, is more commonly encountered in TS during childhood and adolescence. The objective of this systematic review and meta-analysis is to determine the prevalence of hypertension in paediatric patients with TS and in relation to the methodologies of blood pressure evaluation.<p class="ab...

Introduction: Turner syndrome is one of the most common human chromosomopathy and represents an important cause of short stature and ovarian insufficiency. It is caused by total or partial loss of X-chromosome and its prevalence is about 1 in 2000–2500 live female births.Objectives: To review the patients with TS followed in a Paediatric Endocrinology Unit since 1999.Methods: A retrospective study regarding diagnosis, course, ...

Turner’s syndrome (TS) results from a genetic abnormality in phenotypical female individuals where the second X chromosome is either absent or present in a mosaic form. The most obvious consequences are short stature and primary amenorrhoea, although there are often dysmorphic features as well as cardiovascular and genitourinary complications. 90% of TS patients experience primary amenorrhoea with subsequent infertility. Spontaneous recovery of ovarian function in patient...

Background: Low bone mineral density (BMD) and osteoporosis are the frequent consequences of Turner Syndrome (TS).Objective and hypotheses: We examined the BMD in TS girls with different age and karyotype.Methods: Measurements of BMD (g/cm2), Z-score (S.D.) were conducted in 26 girls using X-ray absorptiometry (DEXA) at the lumbar spine L2–L4 depending on the child’s age.<p class="ab...