ESPE Abstracts

Background: The use of international or local growth charts for the definition of pediatric obesity is still debated. Inappropriate reference standards may lead to under/over-estimation of the prevalence and consequently of the number of patients to be included in diagnostic work-up.Objective and hypotheses: To define the differences between patients considered obese according to either CDC or Italian growth charts.Method: A single...

Background: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases associated with an increase of inflammatory cytokines that may to influence child growth. However this is already known, to date auxological data published of JIA patients during biologic treatment are incomplete and very heterogeneous.Objective and hypotheses: To evaluate the auxological features in a selected cohort of patients with JIA treated with biologic drugs....

Background: Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue. Cardinal features affect cardiovascular system, eyes and skeleton. It is caused by mutations of FBN1 gene, which encodes the extracellular matrix protein fibrillin 1. The improper activation of TGFβ, due to defective fibrillin-1, is the pathophysiological mechanism. The altered modulation leads to overgrowth of long bones (disproportionate stature) and altered bone morphology.<p ...

Background: Neuroendocrine tumors (NETs) represent a complex entity of neoplasm arising from different cell types of neural crest origin. They can produce and/or secrete various hormones or vasoactive substances. Usually sporadic, they can occur in association with other cancers, as part of a multiple endocrine neoplasia type 1 (MEN1), von Hippel–Lindau disease, von Recklinghausen, tuberous sclerosis.Case report: We report a case of neuroendocrine t...

Long-term safety of rhGH therapy in childhood has been object of intense investigation in the last decade. Two recent observational studies have focused on the risk of cardiovascular diseases in young adults treated with rhGH during childhood. After subdividing the large cohorts of patients in different risk groups they found that both mortality and morbidity from cardiovascular diseases were higher than the general population in the low risk group including patients with isol...

Background: IGF1 receptor (IGF1R) mutations are associated with pre- and post-natal growth retardation. We describe two monozygotic twins, one of them born small for gestational age (SGA), referred at the age 4 years and 2 months for short stature.Case presentation: The twins were born from non-consanguineous parents at 37-weeks gestational age by caesarean delivery. At birth: patient 1 had weight 2.076 kg (−2.4 SD...

A 2.6-year-old girl of Egyptian origins comes to our attention due to a deflection of the growth rate. The girl was born small for gestational age (SGA), and is affected by congenital hypothyroidism, with normal sized thyroid, treated with Levothyroxine. At the age of 1.8, due to right lameness, an x-ray of pelvis and lower limbs was performed, as indicated by the orthopaedic. The examination showed absence of the distal tibial ossification nucleus in the right leg and entangl...

Hypophosphatasia (HPP) is a rare genetic disease caused by mutations with loss of function in the ALPL gene, which encodes for non-specific tissue alkaline phosphatase (TNSALP). We report a case of infantile hypophosphatasia. Due to positive family history for hypophosphatasia, a chorionic villus sampling was made, with evidence in composed heterozygous of variants c.407G>A and c.1489T>C in the ALPL gene. At birth the patient did not have clinical complications, however ...

Background: Congenital leptin deficiency is a rare cause of early-onset severe obesity. Clinical features of congenital leptin deficiency include early-onset severe obesity, marked hyperphagia, endocrine and metabolic alterations. Some patients have immune dysregulation.Case report: We describe two siblings from Libya referred for severe obesity. A boy (patient 1) referred at the age of 4 years and 3 months and a girl (p...

Introduction: Brain magnetic resonance imaging (MRI) is routinely performed to identify brain lesions in boys with central precocious puberty (CPP). In contrast to girls, in whom more than 90% of cases are idiopathic, it has been reported that 4 up to 75% of boys with CPP have pathological brain lesions.Aim: to evaluate the prevalence of brain lesions in males with isolated CPP and to identify potential clinical and bioc...