ESPE Abstracts

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...

Background: Gender identity (GI) is the unified and persistent self-perception on the male-female spectrum, and its acquisition is a multifactorial process maybe influenced also by minipuberty. GI develops in early childhood and is consolidated around 3-4 years. Several tests assess GI as the Gender Identity Questionnaire for Children (GIQC). GIQC is intended for parents and aims to assess GI in both clinical and non-clinical populations. Aim of the research i...

Background: Gender role behaviour refers to a set of behaviours that differ for boys and girls, although its source and development remain controversial. Gender differences in the choice of toys and activities are observed as early as 12 months. Ad hoc tests, such as the Toy Preference Test (TPT), have been developed to highlight gender differences in paediatric populations. The aim of our study was to investigate play behaviour, to determine which toys are mo...

Background and Aim: Pediatric patients with germline mutations in the phosphatase and tensin homolog (Pten) gene frequently develop aberrant adipose tissue growth called lipomas. In severe cases, recurrent lipoma formation can have adverse effects on organ function and quality of life. Due to the lack of understanding the basis of lipoma development, no systemic treatment options are available. We therefore aimed to characterize an already described lipoma bea...

Background and aim: PTEN hamartoma tumor syndrome (PHTS) is caused by germline mutation in the phosphatase and tensin homolog (PTEN) gene. PTEN is a tumor suppressor gene and antagonist of the growth and survival signalling Phosphoinositide 3-kinase (PI3K)/AKT/mammalian target of Rapamycin (mTOR)- cascade. Patients with PHTS, amongst other symptoms, develop lipomas, for which the underlying mechanism is not completely understood. To investigate the role of PTE...

Pro-opiomelanocortin (POMC) and the melanocortin-4-receptor (MC4R) are playing a key role within the leptin-melanocortin-pathway and thereby for satiety regulation. Mutations within these genes are leading to hyperphagia and early-onset obesity. However, observations of cardiac abnormalities including left ventricular dilatation and reduced contractibility in the MC4R knockout mouse model and reports about a reduced blood pressure in human MC4R variant carriers, led us to inve...

Background: Whilst multi-disciplinary intervention models for children and adolescents with obesity remain recommended best practice, there is a lack of long-term outcome data, especially in home-based models and programs embedded within the clinical setting. Whānau Pakari is a community-based multi-disciplinary assessment/intervention programme for child obesity, focused on reducing health inequity. Based in Taranaki, Aotearoa/New Zealand, it focusses on...