ESPE Abstracts

Introduction: Short stature is one of the main reasons leading a patient to the attention of the Pediatric Endocrinologist. It is important to know the possible causes of short stature, even the rarest genetic mutations associated with short stature. Although the diagnosis of short stature is primarily the result of physical examination with anthropometric measurements, biochemical and radiological data, genetical tests currently play an important role.<p ...

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...

V.C. was referred to our Centre for short stature. The mid-parental target height was 153 cm (-1,6 SDS). Her mother had one spontaneous abortion and displayed mild short stature (151,5 cm). Her father had Arnold Chiari syndrome type 1 and was 165,9 cm tall. V.C. was delivered at term after in-vitro-fertilization pregnancy with intrauterine growth retardation (IUGR) from gestational week 21. Birth weight was 2160 g (SGA, SDS -3,17); length was 45 cm (SDS -2,92); head circumfere...

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...

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: Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder affecting 1:3000 individuals. Endocrine comorbidities have been reported in 1%-3% of all NF1 patients. In children, central precocious puberty (CPP) is the most frequent endocrinopathy (3%). Other endocrinological problems associated with this condition are short stature, growth hormone (GH) deficiency/excess, calcium-phosphate metabolism derangement and decreased bone mineral density...

Introduction: Obstructive sleep apnea (OSA) affects up to 40% of children and adolescents with obesity and the risk for OSA is directly correlated with obesity severity. Several studies have pointed out that OSA per se might lead to metabolic derangement including worsening of insulin resistance, hyperglycemia, and hepatic steatosis. However, the pathophysiologic mechanisms underpinning these associations remain unclear, especially in pediatric groups. The mai...