ESPE Abstracts

Introduction: Children born small for gestational age (SGA) represent a heterogeneous population, displaying different phenotypes for both growth and metabolic status. Low birth length and/or weight increases the risks for not only growth impairment but also for metabolic derangements (cardiovascular disease, hypertension and type 2 diabetes), the latter with an even amplified risk in children with rapid postnatal weight gain. Variability in metabolic paramete...

Background: The treatment of high-risk neuroblastoma still represents a clinical challenge in pediatric oncology. About 50% of children survive after a multimodal treatment based on conventional and high dose chemotherapy, surgery, radiotherapy, differentiating treatment and immunotherapy.Aim: To evaluate endocrine long-term sequels in a pediatric cohort with high-risk neuroblastoma.Patient...

We report rhGH-treatment results in a 14-yrs-old SGA patient with spondylo-epi-metaphyseal chondrodysplasia. The patient carries a rare de novo eterozygous variant of COLA1 (c.1510G>A, P.Gly 504Ser) associated with a rare AD spondylo-epiphyseal dysplasia. Born at term after olygohidramnios-complicated pregnancy, SGA for weight and lenght, the patient has showed a post-natal reducing growth with regular cognitive development. At the age of two height was -4 SDS, with parenta...

Short stature is a frequent disorder in the pediatric population caused by multiple possible reasons. One of them it can be the mutation of the ACAN gene, with an autosomal dominant transmission, which also correlates with accelerated bone maturation and early osteoarthritis up to bone dysplasia. A 10.8-year-old patient came to our observation for poor statural growth (125.8 cm, -2.6 SDS) with a parental target of 150.4 cm +/- 8 cm (-2 SDS), on Triptorelin braking therapy, sin...

Background and Aims: Retesting subjects treated with GH throughout childhood at attainment of final height is of importance to identify those having pGHD and needing replacement treatment during transition years and adulthood, and to avoid overtreatment of GH sufficient subjects. This study aimed at evaluating the clinical and biochemical features of patients diagnosed of isolated idiopathic (II) GHD in childhood at retesting to verify the prevalence of perman...

Purpose: Leptin plays a key role in the regulation of body weight and other endocrine systems. Recently, impairment of leptin gene transcription due to genetic variations in a long-noncoding RNA, also referred as lncOb, has been described in mice. In humans, a correspondent polymorphism (rs10487505) has been associated with relatively low plasmatic leptin levels compared to obesity severity and with early obesity onset.Objectives...

MOPD is known to be caused by homozygous loss-of-function mutations in a specific gene, PCNT. Both intra- and interfamilial clinical variability (even for the same variant) have been frequently observed, which makes it difficult to infer a genotype–phenotype correlation. Pericentrin (PCTN) is a structural protein expressed in the centrosome that plays a fundamental role in anchoring protein complexes, regulating mitotic cycle and thus cell proliferation. High levels of m...

We report and discuss a case of a girl who at birth underwent surgery for Hirschsprung Disease (HD). To closely investigate her condition, we used a Next Generation Sequencing (NGS) panel to carry out a study of some of the genes known as being associated with congenital megacolon (PHOX-2B, RET, EDN3, GDNF, ASCL1 and BDNF). This analysis showed a maternally inherited heterozygous variant in the RET protooncogene (c.734T>A, p.Val245Glu), which is not described in the scienti...

Introduction: Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare cause of childhood hyperthyroidism caused by an activating variant of the thyroid stimulating hormone receptor (TSHR) gene. This disorder may occur as a result of an autosomal dominant inheritance or sporadically through de novo variation. The severity of hyperthyroid symptoms is variable and phenotype differences have been described in subjects harbouring the same mutati...

Background: Many studies have shown that GH therapy can increase final height in children born SGA. Adult height and growth velocity can be improved in these subjects even if there is not a deficiency of endogenous GH (GHD).Objective and hypotheses: We aimed to analyze growth response after 1 year of GH treatment in children born SGA without GH deficiency.Method: Ten patients (six M, four F) born SGA (according to Gagliardi et ...