ESPE Abstracts

Background: Recurrence of craniopharyngiomas influences mortality. Apart from the extent of surgical resection, few clinical parameters have been consistently shown to be associated with recurrence. Radical resection is difficult due to infiltration of surrounding tissue and unacceptable morbidity. Predictors of recurrence are therefore needed.Aim: To establish a multinational cohort of patients with craniopharyngioma an...

Progeria syndromes are rare in children and include several diseases which lead to premature ageing already in children. Therefore, the pediatrician may be confronted with diseases which are normally seen only in persons with advanced age. We report about two children with progeria, in whom diabetes type 2 become manifest early and with a fulminant course in one patient. The first boy was known with Cockayne syndrome, which belongs to the progeria syndromes. He suffered from l...

Introduction: Beta-thalassaemia is caused by point mutations leading to decreased production of beta-globin, which results in defective red blood cells and ineffective erythropoiesis. Complications are microcytic hypochromic anaemia, extramedullary haematopoiesis and increased intestinal iron absorption due to compensation mechanisms. The resulting iron overload can be aggravated by recurrent blood transfusions necessary for treatment of anaemia and may cause several endocrine...

Background: Transient neonatal adrenal dysfunction is reported in association with antiretroviral therapy with Lopinavir and Ritonavir. Other drugs have not been tested.Objective and hypotheses: We report on a preterm girl, born 26 weeks gestation, with elevated 17-hydroxyprogesterone (17OHP) at newborn screening. During pregnancy the mother was treated for HIV with Atripla (Efavirenz, Tenofovir, Emtricitabin) and viral load was suppressed. Furthermore t...

Background: Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene and results in a progressive muscular damage and degeneration. Endocrine complications result from decreased energy expenditure, immobility and glucocorticoid (GC) treatment. Due to the multidisciplinary management and emerging genetic and molecular therapies longer survival is expected and there is an increasing emphasis on the quality of life in DMD. Aim of the study ...

Background: Good glycemic control prevents long-term complications of microvascular and macrovascular diseases in type 1 diabetes (T1DM).We aimed to investigate whether our patients had A1c values <7.5% as recommended by ISPAD and how therapy modality, duration of diabetes and pubertal status affected the metabolic control of our patients. We also set out to compare our quality of care with our results of 2008 and with other publ...

Background: Until now, altered balance of Th1 and Th2 immune cells has been postulated to play an important role in the pathogenesis of autoimmune thyroid diseases (AITD). However, recent studies on thyroid diseases have suggested a new role for Th17 cells that have been classified as a new lineage, distinct from Th1, Th2 and Treg cells. Despite wide interest, the role of Th17 cells in the pathogenesis of inflammatory and autoimmune diseases is still debated.<p class="abst...

Background: In Autoimmune Thyroid Disease (AITD) two types of TSH receptor antibodies (TSHR-Ab) may be distinguished: thyroid- stimulating immunoglobulin (TSI) that promotes the production of thyroid hormones and thyroid- blocking immunoglobulin (TBI) inhibiting the activity of TSH what leads contrarily to hypothyroidism.Objective and hypotheses: The aim of this study was to compare mean TSI and TBI levels in large paediatric cohort with AITD and control...

Background: Hypothalamic–pituitary–gonadal (HPG) axis activates soon after birth, and this ‘minipuberty’ provides a transient phase for evaluation of the function of the HPG axis in early infancy. Substantial differences in postnatal gonadotropin secretion have been reported between preterm (PT) and full-term (FT) boys and girls. Therefore, when evaluating gonadotropin levels in infants, time from birth (calendar age), maturity (postmenstrual, PM age) and s...

Background: Subtle impairments in the thyroid function of pregnant women are associated with poorer scores on mental developmental scales in their children at age 2–3 years, and with reduced performance in a simple reaction time test at 5–6 years. However, associations with school performance estimates have never been studied.Objective and hypotheses: We aimed to assess the effect of normal variation in the maternal thyroid function during earl...