ESPE Abstracts

Abstract: Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin analogue (SSA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects have not been thoroughly evaluated. Furthermore, some authors have emphasized that exocrine pancreatic insufficiency is a common ...

Background: Congenital hypopituitarism (CH), involving deficiencies in one or more anterior pituitary hormones, is rarely observed in combination with severe joint contractures, termed arthrogryposis. Schaaf-Yang syndrome (SHFYNG), which has phenotypic overlap with Prader-Willi syndrome, may be associated with arthrogryposis. L1 syndrome, a group of X-linked disorders including hydrocephalus and spasticity of the lower limbs, may also present with generalized contractures in r...

Objective: To determine the prevalence of congenital hypothyroidism (CH) in children with dry bloodspot TSH (b-TSH) between 5 and 10 mIU/l in neonatal screening and evaluate their thyroid function evolution.Methods: Retrospective study of thyroid function in children born from 2003 to 2010 with b-TSH between 5 and 10 mIU/l who were put on treatment in the first two years of life due to serum TSH≥10 mIU/l. The prevalence of CH ...

Introduction: Brown adipose tissue (BAT) secretes molecules capable of modulating systemic metabolism. Growth hormone (GH) has hyperglycemic action, produces lipolysis and increases muscle mass. However, there are no human studies on its effect on the BAT and lipidome.Aim: To evaluate the effect of GH on BAT and lipidome in small for gestational age (SGA) patients and its relationship with adherence to treatment.<p c...

Introduction: Generally, patients with X-linked hypophosphatemic rickets (XLH) experience normal puberty. However, they can be affected by metabolic and environmental factors that may predispose them to central precocious puberty (CPP) and impair their predicted final height, similar to the general population.Case Report: A female patient was diagnosed with XLH at three and received regular treatment with calcitriol and ...

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...

Introduction: Increlex® was approved as an orphan drug for treatment of growth failure in children and adolescents with SPIGFD in 2007 with relatively little data available. Therefore sequential measurements of serum IGFI, glucose, insulin and potassium were performed in SPIGFD patients treated with Increlex® to evaluate their significance in safety and efficacy.Design: Blood samples were taken after meals before and 30, 6...

Background: It has been reported that children with congenital adrenal hyperplasia (CAH) have higher BMI, increased body fat and greater waist-to-hip ratio (WHR) than control children.Objective and hypotheses: Recently it was speculated that the screening potential of waist-to-height ratio (WHtR) and waist circumference (WC) for cardio-metabolic risk in adults is higher than WHR and BMI.Method: To review this hypothesis, we studied...

Relationship between polycystic ovary syndrome (PCOS) and thyroid autoimmunity has been recently suggested by several authors. Autoimmune thyroiditis (AIT) is the most prevalent autoimmune disease and link between AIT and PCOS has been reported in adult women. There is a hypothesis that functional autoantibodies could contribute to the development of PCOS. The aim of the study was to evaluate the prevalence of thyroid autoimmunity in adolescent girls with PCOS. Forty five adol...

Context: Pituitary apoplexy is rare endocrine emergency, resulting from ischemia and/or hemorrhage and necrosis of a pituitary tumor (typically an adenoma). Children and adolescents show severe headache sometimes associated with cranial neuropathies from compression of the optic chiasm or the cavernous sinus.Case presentation: A 15-year-old boy was admitted with severe headache and vomiting since 3 days, without visual d...