ESPE Abstracts

Background: Rubinstein-Taybi syndrome (RSTS) is a rare genetic syndrome characterized by postnatal growth retardation, intellectual disability, microcephaly, peculiar facial features, broad thumbs and big toes and other organs malformations. There are two forms: RSTS type 1 characterized by CREBBP gene mutations (16p13.3); RSTS type 2 dues to mutations/ deletions in EP300 gene (22q13.2). The type 2 is associated with mild phenotype with possible absence of the typical diagnost...

Background: Intensive insulin treatment allows a good metabolic control and prevents long-term complications. Basal-bolus regimen is the best treatment for children with type 1 diabetes T1D but requires several insulin injections a day. The needle-fear and discomfort felt by the child and parents/caregivers for insulin administration is one of the main obstacle to good compliance.Objective and hypotheses: To compare glycemic control and satisfaction with...

Background: Severe-persistent hypoglycaemia (SPH) in congenital hyperinsulinism (HI) can cause blindness and brain damage. First line treatment with diazoxide treatment can cause significant side effects, including fluid retention. Off-label use of i.v. reconstituted glucagon is also used but little safety and efficacy data have been reported.Objective and hypotheses: To evaluate the use of i.v. glucagon infusion for management of SPH in HI.<p class=...

Background: Severe diazoxide unresponsive hyperinsulinism (DUHI) is most often caused by autosomal recessive variants in the KATP channel genes. Because of the limited medical treatments available, many patients are treated with 98% pancreatectomy. This results in a high rate of diabetes by the age of 15 years. Many centers now try to avoid surgery to prevent the inevitable transition to post-surgical diabetes.Objectives:</strong...

Introduction: Neonatal hypoglycemia (NH) affects about 15% of all neonates and about 50% of neonates born with risk factors, including maternal diabetes, large- or small for gestational age, or prematurity. Although it is known that hypoglycemia in congenital hyperinsulinism can lead to brain injury, it is still not clear to what extent transitional NH is tolerated during the first days of life without brain damage. Thus, treatment thresholds and management st...

Background: Serum dihydrotestosterone (DHT) is an important analyte for the clinical assessment of disorders of sex development. It is also reportedly a difficult analyte to measure. Currently there are significant gaps in the standardisation of this analyte, including no external quality assurance (EQA) program available worldwide to allow for peer performance review of DHT.Objective and hypotheses: We therefore proposed to establish an EQA program for ...

Background: Disruption of homeostatic functioning of the hypothalamic centres results in hyperphagia, autonomic imbalance, reduction of energy expenditure, and hyperinsulinemia. A syndrome of rapid, unrelenting weight gain is often observed in patients with structural lesions of the hypothalamus. Hypothalamic obesity syndrome (HOS) is often refractory to standard dietary and lifestyle interventions. It has been reported that metformin induces anorectic effects via an increase ...

Background: In the last decade, an increase in the incidence of type 1 diabetes mellitus (T1D) has been observed worldwide, as well as an increase in the incidence of allergies in childhood. Both diseases are characterized by an imbalance between Th1- and Th2 cells. Autoimmune disorders are considered to be associated with a Th1 immune response while allergic diseases with a Th2 response. However, studies conducted to find a correlation between T1D and atopic diseases are hete...

Background: Prader–willi syndrome (PWS) is characterized by decreased fetal activity, obesity, muscular hypotonia, MR, short stature, hypogonadism and small hands and feet. Little information is available concerning PWS and kidney involvement.Objective and hypotheses: We report two patients with PWS and congenital abnormalities of kidney and urinary tract (CAKUT).Method: First case: male, born at 35 weeks with caesarian sectio...

Background: There are limited data available on the efficacy and safety of GH treatment in very young (<30 months) short children, born small for gestational age (SGA).Objectives: To determine the effect of 24 months of GH treatment on body height, BMI, and head growth as well as overall psychomotor development (using the Bayley Scale of Infant Development (BSID-II)) and demonstrate its safety in young (aged between 19 and 29 months) short SGA childr...