ESPE Abstracts

Background: Knowing the changes of cardiovascular risk factors (CRF) in relation to weight loss would be helpful to advise overweight children and their parents and to decide whether drugs should be prescribed in addition to lifestyle intervention.Objective and hypotheses: The aim of the study was to determine the degree of overweight reduction to improve CRFs in overweight children.Method: We studied changes of blood pressure (BP)...

Background: Bi-allelic mutations of CYP21A2 encoding 21-hydroxylase are the most frequent cause of congenital adrenal hyperplasia (CAH). Non-classical CAH (NCCAH) or even just hyperandrogenism may be caused by mild or mono-allelic (single) heterozygous mutations of CYP21A2. These mutations are associated either with elevated basal or ACTH-stimulated levels of 17-hydroxyprogesterone (17OHP) in blood.Objective and hypotheses: The objective of this study wa...

Background: In premature and small-for-date infants, immature adrenal enzyme activity, adrenal stress responses and impaired hepatic clearance may lead to mild to moderate false-positive increases of steroid hormone precursors. This complicates screening programs for congenital adrenal hyperplasia (CAH) in these patients.Objective and hypotheses: We present a preterm female infant (born at 33 weeks of gestation) who’s newborn screening 55 h after bi...

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="...

Background: Congenital hyperinsulinism of infancy (CHI) is the most common cause for persisting hypoglycaemia in infancy. Genetic causes are mutations in ABCC8 or KCNJ11 (coding for K+ATP-channel subunits), less frequently mutations in GCK or GLUD1. Further genetic examinations are usually performed only if phenotypic aspects point to other specific genes, such as the rare short chain 3-hydroxylacyl-CoA dehydrogenase (<...

Background: The liver is one of the most important organs in glucose metabolism and closely related to diabetes pathophysiology. Non-alcoholic fatty liver disease (NAFLD) is well known in type 2 diabetes mellitus (DM), but also adult patients with type 1 DM are at increased risk for NAFLD.Objective and hypotheses: Here, we studied the prevalence of liver disease in a representative number of children and adolescents with type 1 DM in Germany.<p class...

Background: An accurate prediction of final height after the first year of growth hormone (GH) treatment may help clinicians to give parents and children more realistic expectations.Objective and hypotheses: To validate two prediction models (with and without max. GH peak) for near final adult height (nFAH) by Ranke et al.Method: Height data of 142 (93 male) idiopathic GH deficient (iGHD) children, treated with GH for at l...

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...

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: Prolactinomas are rare in the prepubertal and adolescent age group. Therapeutic approaches are guided by experience from treating adults. Few series have been reported.Objective: Retrospective analysis of presenting features, treatment and outcomes in young patients presenting to a Tertiary Endocrine Service (total referral population ~3.5 million) managed jointly between Paediatric and Adult Endocrine and Neurosurgical services.<p class=...