ESPE Abstracts

2 siblings were referred for evaluation fo short stature and failure to thrive. Both were born of 3rd degree consanguinity, first and second in birth order. the first sibling was 2 1/2 year old at time of referral and had birthweight of 3.1 kg and had gross motor delay. Present height was 65 cm (SDS −6.2 S.D.)and weight was 6 kg (<3rd centile) Second sibling was 1.5 years old, with gross motor delay with height of 57 cm (SDS −6.5 S.D.</sma...

Background: HSD3B2 is a rare cause of autosomal recessive primary adrenal insufficiency, potentially associated with under virilisation of XY males and virilisation of XX females. We present a case of a male infant presenting at term with ambiguous genitalia (DSD) with underlying diagnosis confirmed biochemically and genetically with a novel mutation of HSD3beta2.Objective: Case report.Patients and methods: Baby was born as FTND wi...

Background: Childhood onset growth hormone deficiency (CO-GHD) may contribute to low bone mass and alterations of body composition. However, the mechanisms by which CO-GHD effects bone health are not yet clearly defined.Objective and hypotheses: To evaluate musculoskeletal health in CO-GHD subjects at initial evaluation and retesting after final height.Method: A cross-sectional study of assessing bone health and body composition by...

Background: In contrast to monogenic diseases, contiguous gene syndrome (CGS) describes a clinical phenotype caused by a deletion or duplication of several neighbouring genes. Angelman or Williams-Beuren syndrome are examples demonstrating that deletion of several adjacent genes causes a complex clinical syndrome. However, CGS are very rare events in pediatric endocrinology, and require knowledge of clinical associations pointing towards specific potentially affected genes in ...

Background: Aortic sized index (ASI) defined as aortic root size/body surface area (BSA) is used to provide information on dissection risk in Turner Syndrome (TS). There are multiple equations for estimation of BSA. The impact of using a different BSA equation for calculation of ASI is unknown.Method: We calculated BSA of 114 TS girls from 2273 outpatient visits using Dubois, Mostellar, Haycock, Gehan, Boyd and Furqan formulae. BSA estimation with Dubois...

Background: Prader–Willi Syndrome (PWS) is a genetic disorder associated with hyperphagia and hyperghrelinemia with major morbidity due to obesity. The aetiology of hyperphagia is unknown, but presumed to be multifactorial, and, as ghrelin is orexigenic, high levels may contribute to weight issues in PWS. Currently, there is no effective medical treatment for hyperphagia in PWS, but targeting appetite could be beneficial. Exenatide (Byetta (synthetic exendin-4); AstraZene...

Background: Cardiovascular disease (CVD) is the major cause of mortality in diabetes mellitus type 1 (T1DM). Dyslipidemia will increase this risk. Several guidelines have been published, how to treat dyslipidemia in T1DM, yet some studies have shown that the number of patients who are treated according to these guidelines is low.Objective and hypotheses: To investigate the frequency of dyslipidemia in children and adolescents with T1DM and if they are tr...

Background: Autoimmune thyroid disease (AITD) is the most common thyroid disorder in the paediatric age range. However, the development of thyroid dysfunction in biochemically euthyroid children with positive TPOAbs and associated risk factors is unclear.Objective and hypotheses: To evaluate the evolution of children with positive TPOAbs and normal thyroid function and identify predictive factors for the development of thyroid dysfunction.<p class="a...

Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare disease with a complex clinical picture and genetic background. In up to 50% genetic mutations are found. The goal is to be able to provide a comprehensive prognosis and genetic counseling for this family with CHH.Case presentation: At the age of 16 years a boy with familial constitutional delay (adrenarche only with 15 years, no growth spurt, bone age 14 years) present...

Background: The imbalance between oxidant-antioxidant status plays an essential role in the pathogenesis of many autoimmune diseases, including autoimmune thyroid disease (AITD). Studies have described that children with AITD have reduced superoxide dismutase (SOD), glutathione peroxidase (GPx), and significantly low zinc levels. This study assessed the effect of daily zinc supplementation for 12 weeks on thyroid auto-antibodies - thyroid peroxidase antibody (...