ESPE Abstracts

Background: Final height (FH) in patients (pts) with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is often under the genetic target, despite improvement of new therapeutic strategies.Objective and hypotheses: The aim of this study is to evaluate FH in a cohort of pts with CAH due to 21OHD diagnosed before and after newborn screening (NBS) era in Emilia-Romagna, Italy.Method: We evaluated final heigh...

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...

Background: Patients with childhood-onset GH deficiency (GHD) are usually retested in late adolescence or young adulthood, after achievement of final height, to verify whether they need to continue GH treatment. Most of the patients found to have idiopathic GHD when tested as children have normal GH responses when retested in the early or late adolescence. Indeed, the 2007 Consensus guidelines for the diagnosis and treatment of GHD adults recommended that idiopathic GHD patien...

Background: Elastargene 3C (E3C) is a cream specifically designed to improve lipoatrophy in patients with diabetes. It is made by many ingredients, among whom are elastin, arnica, collagen, caffeine, and L-carnitine.Objective and hypotheses: We started a 6-month, double-blind, randomized trial to test the efficacy of E3C in children with type 1 diabetes (T1D) using insulin pump (CSII), in whom infusion set usually left little withe scars.<...

Introduction: Childhood obesity is associated with several complications, involving many systems. The prevalence of respiratory problems, such as obstructive sleep apnea syndrome (OSAS), is higher in obese children and adolescents. In fact, OSAS affects 13–59% of obese children and the severity is strongly associated with weight excess. Although overnight pulse oximetry (PO) can be used for diagnosing OSAS, a complete night polysomnography (PSG), which re...

Obesity is increasing, and the related complications are well known. Clinical Trials related with specific diets are currently lacking in paediatrics. There is an increasing interest in Mediterranean diet (MD). The Med4Youth European study* has enrolled 240, 13- to 16-year-old subjects with a BMI above the 90th percentile(WHO curves) in a multicenter randomized controlled trial (Italy, Spain and Portugal) to evaluate the effects of MD. We present the data relative to the 80 su...

CHOPS syndrome is a rare monogenic disorder caused by heterozygous gain-of-function variants in AFF4. The 13 patients reported to date share a highly recognizable phenotype: Coarse face, Cognitive impairment, Heart defects, Obesity, Pulmonary involvement, Short stature and Skeletal dysplasia. AFF4 encodes a scaffold protein involved in transcriptional elongation and critical for gene expression regulation during embryogenesis. Notably, it appears to regulate adipogenic differe...

Background: Fetal growth is partly regulated by epigenetic factors, such as DNA methylation. Altered methylation status in placental genes relates to gestational diabetes, preeclampsia and prematurity. However, the epigenetic mechanisms underlying fetal growth restraint in uncomplicated pregnancies remain unknown.Objective and hypotheses: We aimed at identifying new candidate genes related to fetal growth, by assessing DNA methylation profiling in placen...

Background: Achondroplasia (ACH) and hypochondroplasia (HCH) are the most common forms of chondrodysplasia. ACH is characterized by rhizomelic short stature, macrocephaly and lumber lordosis. Because HCH is clinically milder, HCH is often goes unrecognized in childhood but is diagnosed in adult life when disproportionate short stature becomes obvious.Objective: Although episodic reports showed the recombinant human GH (rhGH) treatment may improve short-t...

Background: Pseudohypoparathyroidism 1A, newly classified as inactivating PTH/PTHrP signaling disorder type 2 (iPPSD2), is defined by resistance to parathyroid hormone, short stature and early-onset obesity. Short stature is caused by skeletal dysplasia and additionally, in some cases, also by the coexistence of growth hormone deficiency, as other hormonal resistances might be present (e.g. thyroid-stimulating hormone, growth hormone releasing hormone (GHRH), ...