ESPE Abstracts

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...

Aims: The aim of the study is to evaluate body composition and microcirculation in children and adolescents with growth hormone deficiency (GHD) and the effects of replacement therapy. These parameters were also evaluated in children and adolescents with suspected GH deficiency but in whom drug stimulus testing was later found to be normal.Materials and Methods: We examined 44 patients (25 males and 19 females) aged betw...

Background and Aims: Initial presentation of type 1 diabetes (T1D) is associated with different level of diabetic ketoacidosis (DKA). Four pancreatic islet cell autoantibodies (Abs) mostly associate with T1D - glutamic acid decarboxylase antibodies (anti-GAD65), tyrosine phosphatase antibodies (IA 2-Ab), insulin autoantibody (anti-IAA) and zinc transporter 8 antibodyAim: To evaluate the prevalence of DKA, the frequency o...

We report a case of hereditary hypophosphatemic rickets with hypercalciuria (Hereditary Hypophosphatemic Rickets with Hypercalciuria, HHRH) in a 13-year-old boy, referred for evaluation due to the onset of bilateral knee pain for about two years. Pain was intermittent and walking limiting and negatively affected quality of life. Negative family history of bone/joint pathologies and kidney stones. The parents are consanguineous (first cousins), have normal stature and no histor...