ESPE Abstracts

Background: Several studies have examined the relationship between type 1 diabetes and bone mass, which reported contradictory data on BMD, bone remodelling markers, and bone quality. Nevertheless an incresead prevalence of osteopenia was observed among patients with duration of disease of >6 years.Objective and hypotheses: The aim of the study was to investigate the potential negative impact of type 1 diabetes on bone status in a group of children w...

Background: Cleidocranial dysplasia (CCD; MIM 119600) is a rare congenital autosomal dominant skeletal dysplasia characterized by hypoplastic or aplastic clavicles, late closure of the fontanelles, open skull sutures, dental anomalies, moderately short stature and a variety of other skeletal features. CCD is caused by mutations, deletions or duplications in the runt-related transcription factor 2 gene (RUNX2), which encodes for a protein essential for osteoblast differentiatio...

Background: Several studies have examined the relationship between type 1 diabetes and bone mass, which reported contradictory data on BMD, bone remodelling markers and bone quality. Nevertheless an incresead prevalence of osteopenia was observed among patients with duration of disease of >6 years.Objective and hypotheses: The aim of the study was to investigate the potential negative impact of type 1 diabetes on bone status in a group of children wi...

Achieving adequate glycaemic control in children with type 1 diabetes (T1D) is essential to reduce incidence and progression of microvascular and macrovascular complications. However, factors that influence glycaemic control remain to be understood. The present study aimed to evaluate clinical, personal, genetic and eating behaviour characteristics underlying glycaemic control in T1D. 325 T1D individuals aged 6 and 20 years and with at least 1 year of disease duration have bee...

Introduction: About 25% of children and adolescents with Type 1 Diabetes (T1D) have one or more associated autoimmune conditions. Although Graves' disease (GD) rarely occurs, considering the potential severity of manifestations, an early diagnosis and appropriate treatment are essential. The first line treatment is methimazole, whose use is not free from side effects; therefore, it is important to start with the most appropriate dosage.<p class="abste...

Background: The term congenital hypothyroidism was introduced more than 60 years ago when Radwin et al. first described children with hypothyroid-associated features of severe intellectual disability and growth retardation. It is the most common endocrine congenital disorder and preventable cause of mental retardation. Newborn screening programs are an efficient tool for the secondary prevention of mental retardation associated with untreated congenital hypothyroidism...

SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic cause of idiopathic short stature also in familial cases. We describe clinical, hormonal and genetic characteristics of patients with SHOX-D haploinsufficiency, followed and treated in the period 2014–2017, in a single Italian centre. The Rappold score was used to screen short children, to select those who needed a genetic analysis of SHOX gene by MLPA and sequencing. We select...

We report the case of a seven-year-old boy, unicogenised child, born at 33w, PN 1,540 Kg, (APGAR 8-10), hospitalized in neonatology unit for 30 days, invasive respiratory assistance was not necessary. At birth evidence of hypospadias with penile incurvation, oval fossa pervia, corpus callosum agenesis. Normal male karyotype. For positivity to screening for IC (in-situ normal thyroid), started L-Thyroxine therapy. When he was six the phenotype showed broad forehead, down-slant...

We report a case of a 10-year-old girl born at 41st week and spontaneous birth, in therapy with analogous GnRH for idiopathic central puberty. At 4 years bilateral thelarche, performed first and second level investigations and recives diagnosis of early idiopathic central puberty. Since then, therapy with triptorelin 3.75 mg i.m every 21 days was administrated. Regular checks, good compliance, and response to therapy. At 10 years old recurring episodes of headache and vertigo....

Gonadotropin-releasing hormone (GnRH) is the master hormone regulating the reproductive axis and its pulsatile secretion is crucial for puberty onset and fertility. Disruption in GnRH neuron development or hypothalamic function can lead to absent or delayed puberty (DP) due to GnRH deficiency, with a phenotypic spectrum from severe delayed puberty to partial or complete Hypogonadotropic Hypogonadism (HH). HH can also be present as a shared trait with other neurodevelopmental d...