ESPE Abstracts

Background: The GnRH stimulation test is widely used in the evaluation of precocious puberty but it requires repeated blood sampling, time-consuming and uncomfortable for the patients.Objective and hypotheses: To identify which parameters can be used to predict pubertal response in GnRH stimulating test for the diagnosis of central precocious puberty (CPP) in girls.Method: Included in the study 123 girls aged 3–9 years that un...

Background: Educating patients and families on the management of Type 1 Diabetes Mellitus (DM) has always been a challenge. Some endocrinologists educate patients and families with new onset Type 1 DM in the inpatient setting, while others have tried to do this process as an outpatient given the changes in the limits of inpatient coverage. Given the challenges in the education process, we must find new and innovative ways to educate patients and families efficiently in order t...

Background: Traumatic brain injury (TBI) is common in childhood and can induce pituitary defects. Long-term endocrine consequences are missing.Objective and hypotheses: To determine in a prospective way if pediatric patients with a personal history of TBI developed long term pituitary deficiency independently of the results of the early hormonal investigation.Method: Prospective follow-up of an initial cohort of subjects (0–15...

Introduction: Familial Mediterranean Fever (FMF) is an inherited auto-inflammatory disorder still extremely underdiagnosed in the Mediterranean area. The disease is secondary to a gain of function mutation of the MEFV gene, classically defined as “autosomal recessive”, with possible symptoms also in heterozygous patients. The mutation induces a hyperexpression of IL-1 beta and a chronic inflammation. Clinical manifestations are characterized by rec...

Introduction: Pituitary stalk thickening (PST) is a rare disease and can cause hormonal deficits and/or mass effect. The most frequent causes in pediatric age are germ cell tumors (GCT) and Langerhans cell histiocytosis (LCH). Hypophysitis with extension to the stalk is extremely rare in pediatric patients. The aimis to describe 4 pediatric patients which were first diagnosed as hypophysitis but final diagnosis was GCT.Clinical C...

Mitochondrial diseases are multisystemic disorders which often involve endocrine system, as defective oxidative phosphorylation can lead to decreased hormones production or secretion and all steroid hormones are synthesized in the mitochondria. Endocrine dysfunctions can therefore represent the initial symptoms of these pathologies and the incidence of various endocrinopathies varies between different mitochondrial disease. Diabetes mellitus is the most frequently described en...

Introduction: Prader-Willi Syndrome (PWS) is a complex hypothalamic disorder, causing hypotonia, intellectual disability (ID), pituitary hormone deficiencies and hyperphagia. Up to 4% of young patients with PWS die unexpectedly, every year. The mean age of reported deaths in PWS is 29.5 years; 20% of deaths even occur below age 18 years. Mortality data show that more than 50% of deaths are of cardio-pulmonary origin. Morbid obesity, diabetes and hypertension are strong risk fa...

Introduction: BMI is claimed to be unreliable in the determination of body fat rate and cardiometabolic risk. Troublesome and reproducibility low measurements like waist circumference, waist circumference/height rate are used in the evaluation of cardiometabolic risk. Triponderal mass index (TMI; weight/height3), however, is suggested to be superior BMI in determining body fat rate and obesity.Purpose: In this study TMI’s relationship wit...

Background: Subclinical hypothyroidism is a common finding in Down syndrome (DS) patients and transition towards overt hypothyroidism can occur, but there are no predictor factors to identify patients that will need replacement therapy later in life.Objective and hypotheses: This is a retrospective cohort study on a population of DS paediatric patients. This study was designed to evaluate possible early predictive features of hypothyroidism development.<...

Background: Type 1 diabetes mellitus (T1DM) in children carries significant psychological stress for families, as well as considerable long-term complications if good metabolic control is not achieved. Tighter metabolic control carries increased risk of hypoglycaemic episodes, and previous research suggests that families with a high fear of hypoglycaemia will run blood sugars higher in order to avoid this. Continuous glucose monitoring (CGM) provides real time temporal measure...