ESPE Abstracts

Background: Children affected by cerebral palsy (CP) could experience central precocious puberty (CPP) 20 times more than general population. Nevertheless, the treatment is challenging.Objective and hypotheses: To compare CPP features and the effects of gonadotropin-releasing hormone agonist therapy (GnRHa) in children with CP and in controls.Method: The study involved 16 children with CPP and CP (median age (range) at diagnosis of...

Background: Congenital hypothyroidism (CH) is a common condition that occurs in ~1:3000–4000 live births and is one of the most common preventable cause of mental retardation with an early diagnosis and prompt pharmacological treatment. Neonatal screening has abolished this disease but 10% of children originally diagnosed with CH will have a transient form of the disorder and this percentage is increased during the last years due to a lowering of cut-off.<p class="abs...

Background: It is reported that children with congenital hypothyroidism (CH) are at increased risk of developing childhood obesity. Moreover, it is known that the timing of adiposity rebound (AR) in childhood is strongly linked with future obesity. Aims of our study were to explore the timing of AR and to identify factors affecting AR in a cohort of children with CH diagnosed by newborn screening and treated with levothyroxine. Design: one-center, retrospectiv...

Background: ‘Thelarche variant’ (TV), also known as ‘unsustained/slowly progressive puberty’ or ‘exaggerated thelarche’, is a term used to describe girls with premature thelarche and intermediate features between isolated premature thelarche (PT) and central precocious puberty (CPP). Despite being characterized by a FSH predominant response and by a peak LH response <5 IU/L to GnRH test, a univocal definition is lacking.<...

Background: Heterozygous loss-of-function variants of fibroblast growth factor receptor 1 (FGFR1) are genetic causes of Combined Pituitary Hormone Deficiency (CPHD), Kallmann syndrome (KS) with anosmia/iposmia, Congenital Hypogonadotropic Hypogonadism (CHH) with normosmia and Septo-Optic Dysplasia. It is well-known that these variants are the main genetic factor underlying the development of CHH and KS; however, they have only occasionally been identified in C...

Background: The large phenotypic spectrum of Disorders of Sex Development are caused by mutations in many different genes, but a large phenotypic spectrum of sexual disturbancies may also be seen with different mutations in the same gene.Objective and hypotheses: To report on one new mutation in the 5 alfa reductase (SRD5A2) gene, and describe the extremes of the phenotypic spectrum of 5 alfa reductase deficiency presented in two patients.<p class="a...

Objective: Advanced glycation end products (AGEs) increased oxidative stress and promote inflammation, resulting in the cellular damage, by interacting with their receptor (RAGE) on cell membrane. By contrast, the soluble receptor for AGE (sRAGE), that is proteolytically cleaved from cell surface receptor via matrix metalloproteinases, sequester RAGE ligands and act as a cytoprotective and anti-inflammatory agent. AGEs-RAGE/sRAGE interaction is deemed to play a role in the pat...

Background: A multidisciplinary team (MDT) intervention may improve severe obesity in children through education and life-style change.Objective and hypotheses: MDT intervention leads to improvements in clinical measures of obesity.Method: Participants were selected by criteria: <16 years old; BMI >3.5SDS or BMI >2.5 SDS with obesity-related co-morbidity. Children and their families, attended intervention sessions over ...

Background: Prolonged poor dietary habits can result in hypothalamic inflammation and gliosis with more recent studies suggest that other brain areas may also be affected. Western or high fat diet intake has been associated with increased cognitive impairment and aberrant feeding behavior, with males and females being differentially affected. The hippocampus participates in both of these functions. Saturated free fatty acids can induce astrocyte inflammation and this could pot...

Despite the fact that patients with diabetes and medical staff are doing their best to achieve tight glycemic control, most patients all over the world do not achieve the goal. Good glycemic control is crucial to prevent diabetes related complications as well as hypoglycemic episodes, seizure, coma and death. The Diabetes wiREless Artificial Pancreas ConsortiuM (DREAM) was established by three diabetes centers in Slovenia, Germany and Israel, with a goal to reduce the risk of ...