Endocrine Abstracts

Introduction: Turner syndrome (TS) is a genetic condition, that results from the complete or partial loss of the second X chromosome in phenotypic females. Typically, patients with TS have growth retardation, altered pubertal development and facial dysmorphism. It’s also associated with other comorbidities.Aim: Here we report a rather rare finding which is the association of TS and Rokitansky-Küster Hauser (RKH) and we discuss the possible ethi...

Background: Turner syndrome (TS) occurs in approximately 1 in 2500 live female births. The frequency of pregnancies in TS patients is 2-5%. However, these pregnancies are at high risk of recurrent miscarriage, malformations in the children and poor cardiovascular outcomes in pregnant TS females.Case presentation: A 34 year-old woman was diagnosed with TS (46XX/46Xr) at age 9. From 16 to 20 years old she was treated with sex hormone replacement therapy an...

Aims: Spontaneous pregnancy (SP) in Turner’s syndrome (TS) has been reported, with a prevalence of 2 to 7%. The aim of this study was to evaluate the prevalence and the outcome from spontaneous pregnancies (SPs) in a cohort of women with TS from a single centre, in order to give realistic counselling regarding options for fertility.Methods: We considered the following data: karyotype, age at diagnosis of TS, age at the time of the study, cardiac, an...

Background: Early diagnosis of girls with turner syndrome (TS) is essential to provide timely intervention and support. The screening guidelines for TS suggest karyotype evaluation in patients presenting with short stature, webbed neck, lymphoedema, coarctation of aorta or >two dysmorphic features (nail dysplasia, high arched palate, short fourth metacarpal or strabismus).Objectives: The aim of the study was to determine the age and clinical features...

Introduction: Adults with Turner syndrome (TS) are at increased risk of cardiovascular morbidity and mortality. The aim of this study was to evaluate the compliance with clinical guidelines (Bondy 2007) in measuring metabolic profiles in adults with TS.Methods: Case notes of patients attending a dedicated TS clinic were studied. Variables assessed included anthropometric measurements, blood pressure (BP), fasting plasma glucose (FPG), HbA1c, fasting lipi...

Introduction: An increased frequency of autoimmune diseases and an elevated incidence of autoantibodies have been observed in Turner syndrome (TS), but indirect immunofluorescence (IIF) has not been able to demonstrate autoantibodies against the adrenal cortex. We asked if the more sensitive radioimmunosorbant assay employing recombinant human 21-hydroxylase was able to identify autoantibodies against 21-hydroxylase, (21OH-Ab) in TS patients; 21-hydroxylase is the major adrena...

Turner syndrome (TS), defined as loss or abnormality of the second X chromosome in a phenotypic female, affects 1 in every 2500 live female births. Around 155 females will be born with TS in the UK each year, with ~2800 girls ≤18 years and ~6500 women aged 18–60 years living with the condition. Short stature is a constant feature with gonadal dysgenesis present in ~90%, Associated features include dysmorphic features which are often mild, lymphoedema, otitis media w...

Background: Turner syndrome (TS) affects 1:2500 live births. Mean age of death is reported 27.9±25.5 years due to cardiovascular complications. Expert care is required for better outcome.Aim: To review data on presentation and follow-up of a large series of patients with TS attending our Adult TS clinic.Patients and methods: The records of 64 out of 72 patients were available for review.Results: About 56...

The risk of hypertension is 3-fold increased in women with Turner Syndrome (TS). Coarctation is a known cause of secondary hypertension but for others the aetiology of hypertension is unclear. Studies have demonstrated elevated plasma renin activity (PRA) in girls and young women with TS and hypothesized that the aetiology of hypertension is small vessel renovascular disease. To explore this possibility further blood pressure (BP) and PRA were measured routinely at the Adult T...

Background: The presence of the Y chromosome and Y-specific sequences (e.g: SRY, DYZ1, DYZ3, DYS132, ZFY, and TSPY, etc) in Turner syndrome patients is a risk factor for gonadal tumors (mostly gonadoblastoma) in dysgenetic gonads. Unfortunately approximately 60% of gonadoblastoma cases, there is a potential to progress towards invasive germ cell tumors (mostly dysgerminoma). Girls with Y chromosomal material also present a higher risk of virilization...