ESPE Abstracts

Background: Ectopic ACTH-producing tumors rarely occur in children, with <1% of all adolescents with Cushing Syndrome (CS). Many cases of ACTH-secreting ectopic neuroendocrine tumors (NETs) are reported in literature. In most patients, tumors secrete corticotropin-like peptides and/or corticotropin releasing factor (CRF)-like peptide, which stimulate cortisol hyperproduction.Background: Ectopic ACTH-producing tumors r...

Background: Multiple endocrine neoplasia type 2B is a rare genetic syndrome caused by germline mutations in the RET proto-oncogene. Approximately 75% of MEN2B cases are sporadic and caused by de novo RET mutations, whereas 25% of cases occurs in families with an autosomal dominant inheritance. The most common RET mutation found in 95% of MEN2B patients is the substitution of the amino-acid threonine for methionine at codon 918. In infants with de novo mutation...

Early identification of monogenic obesity, a rare condition, is quite challenging for pediatricians. Src-homology-2 (SH2) B adapter protein 1 (SH2B1) is an important component in the leptin-melanocortin pathway and it is found to play an important role in leptin and insulin signaling. In humans a rare deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene, is associated with a highly penetrant form of isolated severe earl...

Background: Terminal or interstitial deletions of Xp (Xp22.2→Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill dyschondrosteosis (SHOX), chondrodysplasia punctata (ARSE), mental retardation (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143).Case reports: We report ...

Introduction: We report a series of three siblings, two girls and one boy, diagnosed with Central Precocious Puberty (CPP) respectively at the age of 5.66, 6.67 and 8.5 years, carrying a mutation in the gene encoding the makorin RING finger protein 3 (MKRN3), usually responsible for the development of familial CPP.Methods: We diagnosed CPP in all the patients by performing a GnRH test. We also dosed basal levels of LH, F...

Background: Denosumab is a new class of antiresorptive medication and a fully human monoclonal antibody of the IgG2 immunoglobulin isotype to RANKL. In fact, it binds with high affinity and specificity to RANKL, mimicking the inhibitory effects of Osteoprotegerin, resulting in rapid suppression of bone resorption. Denosumab is commonly used also in pediatric age for treatment of osteoporosis, malignancies, and other benign bone lesions, such as fibrous dysplas...

Background: Improved tools for diagnosis, a higher malignancy risk in thyroid nodules and the referral to surgery in Grave’s disease when medication fails, have lead to increased thyroidectomies in children.Objective and hypotheses: The aim of our study was to evaluate thyroid surgery outcomes and the presence of transient or permanent complications, in a cohort of children who underwent surgery, with the same surgical team, in the last 10 years.</p...

Background: Lipoprotein lipase (LPL) deficiency is an autosomal recessive disease with deficient extrahepatic removal of blood lipoproteins.Objective and hypotheses: Primary LPL deficiency can be exacerbated by coexistent conditions such as diabetes, where relative or absolute insulin deficiency leads to an additional secondary LPL deficiency.Method: We describe two cases in which primary LPL deficiency overlapped with previously d...

Background: Prader–Willi syndrome (PWS) has a relative hypoinsulinemia and a lower insulin resistance than non-PWS subjects. Mostly on the basis of such higher insulin sensitivity, PWS subjects have been hypothesized to be at lower risk of non-alcoholic fatty liver disease (NAFLD).Objective and hypotheses: In this cross-sectional study, we analyzed the presence and the severity of NAFLD in a group of PWS children compared to matched pairs.<p cla...

Background: The association of NF1 with optic pathway glioma (OPT) and GH hypersecretion was initially described in some isolated cases, while the presence of PP was more frequently reported in these patients. Association of gigantism and precocious puberty (PP) in five children with OPT (isolated in two and associated with NF1 in three cases) has been recently published.Aims: To evaluate the frequency of GH hypersecretion in children with NF1 and OPT, t...