ESPE Abstracts

Background: The role of retinol binding protein 4 (RBP4) in the insulin resistance associated with obesity is still unclear and various studies have analyzed the role of its gene polymorphisms as a potential key to understanding the mechanisms involved.Aim: The current study aimed to analyze the relationship between RBP4 levels, the distribution of two SNP (rs3758539 and rs10882280) and the metabolic, anthropometric para...

Resistance to thyroid hormone due to mutations inactivating thyroid hormone receptor-Beta occurs in one in 40,000 individuals and can arise de novo or be inherited, generally in a dominant fashion. Clinical manifestations are widely variable and include failure to thrive in infancy. The biochemical diagnosis is usually straightforward: high serum fT4 and non-suppressed TSH.We report two brothers who both inherited the known c.728G>A, p.R24...

Introduction: Autosomal recessive mutations in the Wolfram syndrome type 1 gene are responsible for the classical Wolfram syndrome (OMIM_ 222300), also known by the acronym "DIDMOAD" (diabetes insipidus, diabetes mellitus (DM), optic atrophy and deafness). The gene encodes wolframin, a membrane glycoprotein, which helps to regulate the calcium homeostasis in the endoplasmic reticulum of many different tissues, including the pancreatic...

Background: Pharmacologic options for treatment of osteolytic diseases especially in children are limited. Although not licensed for use, denosumab, a fully humanized antibody to RANKL, is used in children and shows good effects. Among others, one indication are giant cell tumors of the bone. Yet, there are reports of severe hypercalcemia after stop of denosumab, an adverse effect which is rarely seen in adults.Case reports: Four patients, aged 6, 13 and...

Background: Several visfatin, retinol binding protein 4(RBP4) and high affinity receptor for RBP4, STRA6 (stimulated by retinoic acid) single nuclear polymorphisms’ (SNP) have been investigated regarding their relationship with obesity with controversial results.Aim: To analyze the association of two specific SNP for visfatin, RBP4 and STRA6 with anthropometric markers of obesity in children.Material and method: A case control...

Introduction: Growth velocity is reduced in patients with GH deficiency and this may result in an increase in Body Mass Index (BMI). Treatment performed with Growth Hormone (GH) while accelerating growth velocity, might reduce BMI. The objective of this study was to evaluate BMI in patients with GHD at diagnosis, 1 y and 2 y after started treatment with GH and to compare if there is difference between the BMI of the patients with and without pituitary abnormalities.<p clas...

Introduction: It is well known that thyroid disease (TD) is more prevalent in patients with Down Syndrome (DS). Among the dysfunctions are congenital hypothyroidism (CH), subclinical hypothyroidism (SC-H), Hashimoto’s thyroiditis (HT) and Graves’ disease (GD).The evaluation of the occurrence of these diseases in patients with DS according to age is still poorly reported.Objective: Verify the prevalence of TD in children and adolescents with DS ...

Background: Apparent mineralocorticoids excess syndrome (AME) is an unusual cause of hypertension, caused by genetic mutation of type 2 11β-hidroxysteroid desydrogenase (11BHSD2) enzime, which metabolizes cortisol(F) to cortisone(E). Patients with AME born from consanguineous parents, are small for gestagional age (SGA) and could have nephrocalcinosis, hypokalemia and high plasma cortisol/cortisone relation (F/E).Objective: To tell the clinical and ...

Background: DAX-1 (NR0B1) plays a key role in adrenal and reproductive development. It interacts with other nuclear receptors; however, its exact biological role remains unclear. In men most patients with X-linked adrenal hypoplasia congenita (AHC) present with acute adrenal failure. To date DAX-1 mutations have been found in more than 100 families or patients with X-linked AHC.Results: We report the case of a 2.5-year-old boy who presented with a histor...

Background and aims: The aromatase inhibitor letrozole is used to improve final height in boys with predicted short stature by delaying bone age (BA) maturation due to suppression of estradiol levels. There are few data regarding its effects, especially when used as single medication.Methods: Ten pubertal boys with predicted low final height treated with letrozole 2.5 mg/d p.o. (no other medication) for up to 24 months were analysed for auxological, labo...