ESPE Abstracts

Background: GH has been shown to influence glucose homeostasis through a negative effect on insulin sensitivity followed by a compensatory increase of insulin secretion. However it has been recently reported, in animals and in humans, that GH might stimulate insulin secretion also through a direct effect on the growth and on the function of the pancreatic β cell.Objective and hypotheses: To study longitudinally the insulin sensitivity (HOMA-S), the ...

Background: Cardiovascular diseases are the leading cause of premature death among women with Turner syndrome (TS). Studies in youth with TS suggest that cardiometabolic-related dysfunction is present in childhood, however these small convenience samples may not be generalizable to the whole TS population. PEDSnet, the largest pediatric Health Learning System in the United States (US) representing >6 million children, offers a unique opportunity to examine ...

To support people with chronic diseases in labour, reïntegration or participation, the Dutch Centre of Chronic Illness and Work developed a certification programme for professional experienced based coaching for patient support organisations. This 8-month during programme combines professional aid and peer-support for a diversity of chronic diseases. Experience based coaching is innovative and can assist patients emotionally by supporting them with coping and accepting th...

Background: Different studies have underlined the role of anti-Müllerian hormone (AMH) and inhibin B as markers of the ovarian function in paediatric and adolescent patients with Turner syndrome (TS).Objective and hypotheses: Our study aims to verify the role of AMH in a cohort of patients affected by TS.Method: We analysed 23 TS patients, aged 2–34 years, describing their auxological parameters and the pubertal developme...

Introduction: Turner syndrome (TS) is one of the most common chromosomic disorders characterized by partial or complete lack of one of X chromosomes. It presents variable phenotypic spectrum. Isochromosome of long arm (iXq10) is the third most frequent karyotype and could be in mosaicism in 10-15% of TS. The phenotypic manifestation are similar than girls 45X. It is described a higher incidence of thyroid autoimmunity (even though is currently under discussion) and of diabetes...

Background: Girls with Turner Syndrome (TS) are at an increased risk of primary ovarian failure. Oestrogen replacement is commenced at around the age of 12 years, in girls who do not enter puberty spontaneously, with incremental changes to the dose over the next 3 years until adult replacement doses are achieved. We have previously shown good correlation between serum and urinary LH (uLH) and FSH (uFSH) in children being assessed for disorders of puberty.<...

Turner syndrome (TS) is characterized by partly or completely missing of an X chromosome and variability of clinical signs. We present tree Caucasian mosaic TS girls with unusual clinical course and discuss some literature.Case 1: A girl referred first to paediatric endocrinologist at the age of 8.5 y. for metabolic problems (an excessive weight gain, acanthosis nigricans, impaired glucose tolerance, hyperinsulinemia). The height was not a concern (Media...

Background: Turner syndrome (TS) patients are at increased obesity risk. Additionally body composition in TS is distinctly altered. The percentage of body fat mass (BFM) is higher. Also adipokine dysregulation is observed. TS is associated with aortic dilatation, which is seen not only in patients with congenital aortic defects but also in patients without underlying pathology. Considering different co-morbidities common in TS, it’s extremely important to evaluate wide sp...

Background: Turner syndrome is the most common sex chromosome disorder in females and occurs in about 1/2500 newborn girls worldwide. On chromosomal analysis, the various karyotypes observed are: 45,X (50%); 45,X/46,XX (20%); 46,X, i(Xq) (15%); 46,X, r(X) or 46,X, del(X) (10%); and others (5%).Objective and hypotheses: We present the case of a 17-year-old girl referred to our service for primary amenorrhea. Clinical examination: height=163 cm (62nd perce...

Background: Congenital heart defects are found in 50% of girls with Turner syndrome (TS). The evaluation of cardiovascular system is an important element in the diagnostic work-up of TS and is of particular significance of cardiologic monitoring, safety aspects of rGH treatment and any pregnancy planning.Objective and hypotheses: Assess the cardiovascular system in TS girls with magnetic resonance imaging of the heart and aorta (CMR and angioMR).<p c...