hrp0089fc15.1 | Growth and Syndromes | ESPE2018

The Diagnostic Yield of a Targeted Next Generation Sequencing Panel in Children with Short Stature of Undefined Aetiology

Perchard Reena , Murray Philip G , Highton Georgina L , Whatmore Andrew J , Clayton Peter E

Background: Currently, data on the diagnostic yield of targeted gene panels using next generation sequencing (NGS) in children with short stature of undefined aetiology (SSUA) are limited. EPIGROW (ClinicalTrials.gov ID NCT00710307) was a prospective European epidemio-genetic study in which a targeted NGS panel including 69 genes associated with short stature (e.g. primordial growth disorders and skeletal dysplasias) was performed in 263 patients and 263 controls. In these pat...

hrp0089rfc7.3 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Central Venous Cathether-Associated Thrombosis in Children with Congenital Hyperinsulinism

Yau Daphne , Salomon-Estebanez Maria , Chinoy Amish , Murray Philip G , Banerjee Indi

Introduction: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in infancy caused by dysregulated insulin secretion. The management of severe hypoglycaemia often requires the administration of high dextrose-containing fluids through a central venous catheter (CVC). However, CVCs carry the risk of complications including thrombosis. We sought to determine the incidence of CVC-associated thrombosis in patients with CHI and examine associated risk factors...

hrp0089p3-p214 | GH & IGFs P3 | ESPE2018

Two Siblings with Short Stature

V Sri Nagesh , Dauber Andrew , Kanithi Ravishankar , Dutta Deep , G Ram Kumar

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...

hrp0086p2-p80 | Adrenal P2 | ESPE2016

Addisonian Crisis Due to Autoimmune Adrenalitis in a 14 Year Old Boy with a History of Stem cell Transplantation (HSCT)

Penger Theresa , Albrecht Andrea , Marx Michaela , Voelkl Thomas , Stachel Daniel , Metzler Markus , Doerr Helmuth G.

Background: Various endocrine complications are common after HSCT but primary adrenal insufficiency (Addison’s disease, AD) is absolutely rare. To the best of our knowledge, there is only one case of AD reported in a 9-year-old girl after HSCT and busulfan and cyclophosaphamide-based conditioning for myelodysplastic syndrome.Objective: We report on a 14-year-old boy from Albania who developed an Addisonian crisis 12.7 years after HSCT.<p class="...

hrp0086p2-p82 | Adrenal P2 | ESPE2016

A Novel Mutation of HSD3beta2 Presenting as Hypospadias with Salt-wasting in a Male Infant

Buchanan C.R. , Kalitsi J. , Ghataore L. , Taylor N.F. , Clifford-Mobley O. , Rumsby G. , Kapoor R.R.

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...

hrp0086p1-p112 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Bone Health and Body Composition in Childhood Onset Growth Hormone Deficiency at Time of Initial Evaluation and Retesting

Ahmid M , Shepherd S , McMillan M , Ahmed S F , Shaikh M G

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...

hrp0086p2-p644 | Growth P2 | ESPE2016

Adverse Effects after Priming with Testosterone in Short Statured Boys before Growth Hormone Stimulation Test

Albrecht Andrea , Penger Theresa , Marx Michaela , Voelkl Thomas , Hirsch Karin , Doerr Helmuth G

Background: Current guidelines recommend the priming with low-dose testosterone in prepubertal boys prior to growth hormone stimulation tests. To our knowledge, only few adverse events after low-dose testosterone have been described so far.Objective and hypotheses: To assess possible side effects of testosterone priming.Patients: We studied 188 prepubertal boys aged between 10 and 15 years (mean ± S.D.: 11.4&#17...

hrp0086p1-p697 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Contiguous Gene Syndrome Involving DAX1 Deletion with Congenital Adrenal Insufficiency

Dafsari Roschan Salimi , Haas Dorothea , Leube Barbara , Eichhorn Joachim G. , Mayatepek Ertan , Meissner Thomas , Kummer Sebastian

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 ...

hrp0086p1-p803 | Syndromes: Mechanisms and Management P1 | ESPE2016

Body Surface Area Estimation in Girls with Turner Syndrome: Implications for Interpretation of Aortic Sized Index

Fletcher A , McVey L , Guaragna-Filho G , Hunter L , Lemos-Marinia SHV , Santoro RI , Mason A , Wong SC

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...

hrp0082p1-d2-5 | Adrenals &amp; HP Axis | ESPE2014

Carbohydrate Metabolism in Children and Adolescents with Classical Congenital Adrenal Hyperplasia due to 21-Hydoxylase Deficiency

Dorr Helmuth G , Pichl Carolin , Marx Michaela , Herzog Nadine , Klaffenbach Daniela , Volkl Thomas

Background: Reports on obesity, high blood pressure and reduced insulin sensitivity in children with classical congenital adrenal hyperplasia (CAH) indicate an increased cardiovascular risk.Objective and Hypotheses: To evaluate potential mechanisms, we analysed various parameters of the carbohydrate metabolism in children and adolescents with CAH.Method: Out of 86 patients with classical CAH, n=41 (21 m, 20 f; ages: 6.9&#1...