ESPE Abstracts

Background: Pituitary apoplexy (PA) is a rare clinical emergency in pediatric population. In patients with apoplexy-like symptoms, clinical and imaging features of PA, caused by hemorrhage in a pre-existing macroadenoma, are sometimes difficult to distinguish from Rathke cleft cyst (RCC).Case presentation: A 14.5-year-old boy, with an uneventful past medical history except for mild COVID-19 infection six months earlier, ...

Background: Congenital hyperinsulinism (CHI) is the most common cause of the persistent hypoglycemia in children and occurs in approximately 1 in 50,000 live births. Genetic testing provides information on the pancreatic histological subtype (i.e. focal vs diffuse) and determines further management and prognosis of the patients. At least 11 known monogenic forms and several syndromes have been associated with CHI. Mutations in ABCC8 and KCNJ11 genes coding pot...

Introduction: Italy was the first EU country to be affected by COVID-19 outbreak. The sudden change in everyday life was challenging for children and young people (CYP) who rely heavily on peer connections for emotional and social support. Concerns for consequences in CYP with type 1 diabetes (T1D) rose.Objectives: To compare the diabetes-specific health-related quality of life (D-HRQOL) of CYP with T1D and their parents...

Introduction: Quality of life (QoL) is a multidimensional indicator including several functions and represents an important evaluator of patient’s health, especially in chronic diseases. Treatment with aGnRH in Central Precocious Puberty (CPP) is source of stress for patients and families. The aim of our study is to evaluate QoL and levels of therapy-related stress in patients with CPP and in their families during and after treatment.Material and me...

Background: Down syndrome (DS) is the most common genetic (chromosomal) mental retardation syndrome. In these patients, several environmental and hormonal factors contribute to low bone mineral density (BMD), among these factors, vitamin D may play a significant role in the health of patients with DS. However, poor studies have evaluated 25-hydroxy cholecalciferol (25(OH)D) levels in DS.Objective and hypotheses: The purpose of this study was to assess se...

Introduction: Turner's syndrome (TS) is associated with several manifestations the most frequent being short stature and hypogonadism. Some authors (Nadeem, 2012; Bakalov, 2008) reported that individuals with TS have increased risk of fractures, but the etiology and mechanism of bone fragility have not been yet fully elucidated and may be exacerbated by hormonal factors (Cintron, 2017; Soucek, 2015). Bone densitometry (BD) through the emission of double en...

Background: Polybrominated diphenyl ethers (PBDEs) are widely used as flame retardants and have shown endocrine disruption properties in experimental studies. Preliminary studies in animal models have suggested a link between exposure to PBDE and alterations of puberty and reproduction.Objective and hypotheses: To investigate the association between the exposure to PBDEs and alterations of puberty in girls, referred for idiopathic premature thelarche (IP...

The ongoing European LIFE-MILCH project(www.lifemilch.eu), focuses on detecting Endocrine Disrupting Chemicals in mothers, in breast and formula milk and in urine of mothers and infants up to 12 months of age studying relationships with neurodevelopment, growth, distribution of adiposity, pubertal stages to establish a risk assessment model to prepare safety guidelines. In this study we have evaluated the effects of maternal diet during and after pregnancy, and of duration of ...

The ongoing European LIFE-MILCH project (www.lifemilch.eu), focuses on detecting Endocrine Disrupting Chemicals in mothers, in breast and formula milk and in urine of mothers and infants up to 12 months of age studying relationships with neurodevelopment, growth, distribution of adiposity, pubertal stages, and ano-genital distance (AGD) to establish a risk assessment model to prepare safety guidelines. In this study we evaluated the effects of maternal diet during and after pr...

Childhood-onset growth hormone deficiency (CO-GHD) is topical at present due to the increasing understanding of underlying genetic aetiologies, influence on childhood growth, and future effects on adolescence and adult health. There is no previous Irish data of this group of children.Methods: A retrospective cohort study over 2 years (2013-2015) including all children diagnosed with GHD who received recombinant growth hormone treatment (rGH). Predictors ...