ESPE Abstracts

Background: Gonadotropin releasing hormone analogs (GnRHa) are effective in improving adult height in children with precocious onset of puberty, rapid progression, and good growth potential. In last years, however, some transient metabolic complications have been described during the treatment without the reassurance of long-term data yet. The aim of our study is to clarify if body mass index (BMI) at diagnosis of idiopathic central precocious puberty (iCPP) c...

Background: Childhood tumours of the hypothalamic pituitary axis (HPATs) are very rare and hence any single centre experience is limited. Without evidence-based guidance, treatment is individualised on a case basis. Survival rates are high, but at the expense of significant morbidity. Centralised care or wider multi-professional consultation may improve neuroendocrine and visual outcomes.Objective and hypotheses: i) To facilitate multi-professional dialo...

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED, OMIM240300) is a rare monogenic disease due to biallelic mutations in the Autoimmune Regulator (AIRE) gene. This encodes for a thymus-enriched transcription factor responsible for central immune tolerance. Classic diagnostic criteria are the presence of two of main symptoms of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and Addison’s disease (AD). Non-endocrine autoimmun...

Objectives: To investigate prognostic markers (age, initial hearing level, karyotype, chronic hormonal therapies, and presence/absence of a mid-frequency dip influence) for hearing loss (HL) in Turner syndrome (TS).Design: Longitudinal cross-sectional and retrospective study.Study Population: 61 TS females (age range 4 - 45 yrs), diagnosed by cytogenetic analysis (49,2% monosom...

Background: Autoimmune diseases have a higher incidence and prevalence among the individuals with Down syndrome (DS) compared to chromosomally normal people (increased risk for thyroid, gut and islet autoimmunity, juvenile idiopathic arthritis) These findings provide insights into a very aggressive phenotypic expression of autoimmunity in DS children.Objective and hypotheses: To investigate for the 1st time whether the association with DS might per se mo...

Background: Hashimoto’s thyroiditis (HT) is the commonest autoimmune disorder in Turner syndrome (TS). Although there are in the pediatric literature many studies on the relationships between TS and HT, only few of them have specifically investigated whether the association with TS might be able to significantly affect the evolution over time of thyroid function in children and adolescents with HT, by conditioning a different thyroid status prognosis.<p class="abstext...

Background: Prolonged severe hypothyroidism due to Hashimoto’s thyroiditis (HT) is a rare cause of pituitary hyperplasia (PH) in children. Loss of thyroxine negative feedback causes a TRH-dependent hyperplasia of pituitary thyrotroph cells resulting in adenohypophysis enlargement. A transdifferentiation of pituitary somatotroph cells into thyrotroph cells could explain growth failure in those patients. We report a case series of patients with growth impairment diagnosed...

Background: Central precocious puberty (CPP) results from premature activation of hypothalamic-pituitary-gonadal axis, which leads to an increased release of gonadotropin-releasing hormone (GnRH). GnRH stimulates the development of secondary sexual features, rapid bone maturation and growth. GnRH agonists (GnRHa) represent the gold-standard therapy in CPP children and their use is responsible for pituitary GnRH receptors down-regulation, luteinizing hormone (L...

Background: Osteocalcin plays a role in glucose metabolism in mice, but its relevance in human energetic metabolism is controversial. Few data are available on osteocalcin in pediatric patients with T1DM. The aim of our monocenter observational study was to evaluate the role of the main remodelling bone biomarkers in the regulation of glucose metabolism at the time of type 1 diabetes diagnosis and to evaluate their potential relationship with insulin sensitivi...

Background: Disorders of sex development (DSD) are often due to disruption of the genetic programs that regulate gonad development. Some genes have been identified in these developmental pathways such as DAX-1, SOX-9, GATA-4 and others. The GATA-4 gene, located on chromosome 8p23.1, encodes GATA-binding protein 4 (GATA-4), a transcription factor that is essential for cardiac and gonadal development and sexual differentiation. Congenital heart disease (CHD) and...