ESPE Abstracts

Introduction: This study describes the experience of introducing Nao, a humanoid robot, into a Summer Camp for children with diabetes (August 2013, Misano Adriatico, Italy), with the aim to provide them a companion capable to support and motivate. Our goal was to investigate if, Nao’s interactions with children could positively affect the adherence to specific medical recommendations during their stay. Namely children were asked to fill in a specific nutritional diary. Th...

Background: Familial glucocorticoid deficiency (FGD) is a rare and potentially life-threatening disease, characterized by adrenal insufficiency without mineralocorticoid deficiency. It is diagnosed during the neonatal period but also in childhood. Manifestations are recurrent hypoglycemia, seizures or even coma, chronic fatigue, recurrent infections and skin hyperpigmentation. Mutations on mineralocorticoid receptor 2 (MC2R) gene and on melanocortin-2 receptor accesso...

Background: In young adults patients (pts) with CAH due to 21OHD few and conflicting data have been reported on bone mineral quality (BMQ) evaluated by quantitative ultrasound (QUS).Objective and hypotheses: To evaluate the bone mineral status by QUS variables assessed at proximal phalanges of the hand in a cohort of young adults with classical CAH due to 21OHD and the possible associations with their clinical and metabolic features.<p class="abstext...

Background: Thyroid nodules (TN) are rare in children but often show more aggressive features than in adults. Irradiated childhood cancer survivors (CCS) are at risk for malignant thyroid nodules.Objective and hypotheses: To retrospectively compare the incidence of differentiated thyroid cancer (DTC), the clinical onset and the medium-term follow-up in a pediatric population (EC <18 years), with and without risk factors examined for TN, among 1990 an...

Background: The isodicentric Y (idic Y) is one of the most common aberrations of the Y chromosome. Most patients (pts) are chromosomal mosaics, including 45,X cell line.Objective and hypotheses: Our aim is to describe clinical and molecular features of our 45,X/46,Xidic(Y) cases.Method: We retrospectively evaluate the clinical description of nine cases (six females, one male, two with ambiguous genitalia) with mosaic karyotype 45,X...

Background: Thyroid dysgenesis has been considered a sporadic disease, but recent observations suggested a possible genetic basis.Objective and hypotheses: The aim of our report is to evaluate the incidence of hormonal and ultrasound thyroid anomalies in siblings of CH patients with thyroid dysgenesis.Method: In Emilia-Romagna Region (Italy) 328 CH infants were diagnosed by neonatal screening between January 2000 and December 2012....

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: X-linked hypophosphatemic rickets (XLH) is caused by inactivating mutations in the phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX). In this group of patients, data about renal calcifying disorders are scarce.Objective and hypotheses: To determine the prevalence of nephrocalcinosis and nephrolithiasis and their risk factors in XLH patients.Method: 36 patients (15 children a...

Background: Primary adrenal insufficiency (PAI) is a rare life-threatening disorder. Data on PAI in children are scanty, with the exception of Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD).Objective and hypotheses: Evaluate etiology of PAI in a large cohort of children and characterize clinical presentation in subjects with PAI not due to 21-OHD.Method: Children followed in eight tertiary centers wer...

Background: 12 cases of neurofibromatosis type 1 (NF-1) children with optic pathway glioma (OPG) and GH excess (GHE) are reported to-date. The aetiology of GHE is unknown. We describe two NF-1 girls and OPG with reversible GHE. The diagnosis of GHE was established from auxological data, high IGF1 and lack of GH suppression during an oral glucose tolerance test (OGTT). Our aim is to increase awareness of GHE in NF-1 children with OPG and help its management.<p class="abstex...