ESPE Abstracts

Background: APS type 1 is known to be associated with autoimmune gastroenterological pathology, which could be the very first and the worst-controlled manifestation of APS type 1. Treating these conditions in APS type 1 is debatable at present.Objective and hypotheses: We describe gastroenterological pathology in7 patients with APS type 1: clinical specifics, therapy, outcomes.Methods:</str...

Introduction: Central Precocious Puberty (CPP) has recently been described in patients with isolated or syndromic neurodevelopmental disorders, with greater attention from the scientific community. We carried out this study to compare the main aspects of non-isolated and isolated forms of CPP.Methods: We conducted a retrospective monocentric study, collecting all treated cases of CPP from 1st January 2013 to 31 December ...

Background: Insulin-like Growth Factor-1 (IGF-1) is an amino acid peptide produced under the effect of Growth Hormone (GH), mostly secreted by the liver, which stimulates bone growth. IGF-1 levels have high specificity and low sensitivity for the diagnosis of Growth Hormone Deficiency (GHD). Higher IGF-1 levels are classically associated with a better response to growth hormone therapy. The aim of this study was to investigate the correlation between serum IGF...

Children born small for gestational age (SGA) not showing catch-up growth in the first two years of life may show decreased growth rate and adult height, as well as worse metabolic profile, compared to general population. In these patients, growth hormone (GH) treatment is recommended, showing positive effects on both growth rate and metabolic profile, with good tolerability. The aim of the current study was to evaluate the auxological and metabolic effects and the safety of G...

Aim: To develop a low cost formula as screening tool for identifying youths with overweight/obesity (OW/OB) at risk for impaired glucose tolerance (IGT).Methods and results: A retrospective observational study was performed in 1189 Caucasian youths with OW/OB aged 5-17 years, in whom information about family history for diabetes (FD), fasting glucose (FG), 2-hour glucose levels post-oral glucose tolerance test, alanine a...

Background: Carney complex (CNC) is a rare autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome, characterized by abnormal cutaneous and mucosal pigmentation, myxomas of the heart, skin, breast and other non-endocrine tumors. CNC is principally caused by loss-of-function mutations of PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Cushing’s syndrome is a rare disorder in...

Objectives: Increased central and peripheral sensitivity to thyroid hormones seems to be associated with an increased risk of developing prediabetes in adulthood. The objective of this study was to evaluate the relationship between the severity of obesity, the presence of glyco-metabolic alterations, and tissue sensitivity to thyroid hormones in prepubertal euthyroid children with simple obesity.Methods: Eighty prepubert...

The proband is a Caucasian girl with primary amenorrhea and no breast development at the age of 16 11/12 yrs. Unrelated parents; an older brother in good health and a twin brother (GA 31 days; BW 1450g) with reported agenesis of the corpus callosum and socio-emotional behavioral problems. The mother (menarche 14 yrs. and bicornuate uterus) presented four early spontaneous abortions and one stillborn fetus (46, XX) in the 6th month of pregnancy; remaining negative family histor...

Background: Insulin resistance (IR) plays a key role in the pathogenesis of type 2 diabetes (T2D). In neurologically impaired (NI) children unfavorable cardio-metabolic risk profile with high prevalence of IR has been reported. We evaluated the prevalence of T2D in NI children and adolescents, in order to define if a dedicated glucose monitoring may be recommended in these subjects.Patients and Methods: We retrospectivel...

Background: GnRH-analogs (GnRHa) are the recommended treatment for Central Precocious Puberty (CPP). Despite a normal long-term outcome is generally reported, reproductive function and emotional sphere in adulthood are still poorly evaluated.Objective: To evaluate the general long-term outcome of young women with previous CPP treated with GnRHa.Patients and Methods: A cohort of 63 ...