ESPE Abstracts

Pseudohypoparathyroidism (PHP) is an hereditary disorder characterized by resistance to parathyroid hormone (PTH) and in varying degrees to TSH, GHRH and FSH/LH, and caused by loss-of-function mutations in the GNAS gene, encoding the membrane protein Gs-alpha. Pathognomonic of these patients is a dysmorphic phenotype, called Albright's Osteodystrophy, which includes short stature, obesity, round face, mental delay, subcutaneous ossifications and brachydactyly. The most fr...

Precocious Puberty is defined by the onset of pubertal development at an age 2-2,5 standard deviations earlier than the normal population. Central Precocious Puberty (CPP) is diagnosed when the hypothalamic-pituitary axis is activated. Gonadotropin-releasing hormone analogues (Gn-RH analogues) are the main treatment option, but sometimes controversial. Whether this treatment influences children's body mass index (BMI) and a different BMI progression is still unclear.<p...

Background and objective: Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of rare endocrine disorders caused by genetic or epigenetic abnormalities affecting the GNAS locus. It is mainly characterized by resistance to PTH and TSH and a complete or partial Albright Hereditary Osteodistrophy (AHO) phenotype. Few data so far exist on LH/FSH, calcitonin and glucose-lipid metabolism involvement, as well as on neurocognitive aspects. The aim of this multicentre study ...

Background: Cantù syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Other findings described are vascular abnormalities, pulmonary hypertension, generalized edema, mild learning disability and behavioral problems. Cantù syndrome is related to an heterozygous pathogenic variant in ABCC9 or KCNJ8, which can be inherited in an autosominal dominant manner or d...

Background: Functional insulin therapy allows precise insulin adjustments to achieve normoglycaemia.Objective and hypotheses: To assess metabolic control (A1c) and lipid profile in children and adolescents with DM1 in a 3-year period under multiple daily injections (MDI) since the diagnosis.Method: Retrospective analysis of children and adolescents under functional insulin therapy since the diagnosis of DM1. The variables studied w...

We present the case of a five-day female admitted to our Paediatric Unit due to TSH elevation (bTSH 303 mIU/L) on routine neonatal screening for congenital hypothyroidism (CH). The patient was born at 38 weeks’ gestation by c-section presenting with adequate auxological parameters. Her mother suffered from Hashimoto’s disease, already diagnosed before pregnancy, and requiring Levo-thyroxine therapy (L-T4). Blood tests performed at five days of life revealed the pre...

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...

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 ...