ESPE Abstracts

Aims: The balance between hypo/hypercortisolism and hypo/hyperandrogenism is the main challenge in clinical management of patients with 21-hydroxylase deficiency (21OH-D). In adults, it has been established that both over and under-treatment might lead to the development cardiovascular risk factors. To date, only a few studies have addressed weather this risk begins in childhood. Aim of our study is to define the presence of early metabolic risk factors preval...

Background: COVID-19 restriction measurements have determined profound alterations in glucose and insulin metabolism in children with overweight and obesity. However, to date few data have explored the effects of the relaxation of restrictions in the pediatric population. Thus, we compared anthropometric and OGTT data in children with overweight and obesity during the two years after (2021-2023) compared to the two years during (2020-2021) and before (2018-201...

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 ...

Introduction: Ectopic posterior pituitary (EPP) is a neuroimaging diagnosis frequently identified together with other hypothalamo-pituitary (H-P) abnormalities [hypoplastic anterior pituitary and thin interrupted stalk -Pituitary Stalk Interruption Syndrome (PSIS)] and associated with variable endocrine phenotypes evolving over time. We aim to describe the spectrum of hormonal deficiencies and neuroimaging abnormalities in a large cohort of children with EPP.<...

Non-autoimmune hypothyroidism is characterized by high serum TSH level, normal or low thyroid hormones, absence of autoantibodies and normal or hypoplasic in situ thyroid gland. It is known that heterozygous mutations in the TSH receptor gene (TSHR) are associated with partial TSH resistance which clinically ranges from isolated hyperthyrotropinemia to non-autoimmune hypothyroidism. Despite this, an absence of mutations in the TSHR gene has been repo...

Genetic obesity is rare and usually affects the hunger/satiety circuit. Monogenic obesity is mainly due to variants in genes of the leptin-melanocortin pathway which regulates the control of food intake. Melanocortin 4 receptor (MC4R)-linked obesity has been reported as one of the most common forms of monogenic obesity. Mutations in the MC4R gene have been described in 2-3% of obese children and adults with variable severity of obesity and no additional phenotype. Syndromic ob...

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by mutations in PHEX gene and characterized by low phosphate levels and impaired bone mineralization. Burosumab, a monoclonal antibody targeting fibroblast growth factor 23 (FGF23), has emerged as a crucial therapy for XLH management, increasing serum phosphate levels and improving bone health. Recent studies indicate that inflammation may play a crucial role in the XLH complications...

Background: Hypobetalipoproteinemias (HBL) is a heterogeneous group of disorders characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (ApoB). Familial hypobetalipoproteinemia (FHBL) is the most frequent monogenic form of HBL with a dominant mode of inheritance. It may be due to loss-of-function mutations in APOB or, less frequently, in other genes. Heterozygous patients are often asy...

Background: Early identification of idiopathic hypogonadotropic hypogonadism (HHI) and constitutional pubertal delay is quite challenging for pediatricians. In males, serum inhibin B levels are detectable throughout life, with marked changes during puberty. We present the case of a young male with GHD in rhGH treatment without progression in Tanner pubertal stages during follow-up.Case report: A fourteen-year-old male pa...

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...