ESPE Abstracts

Background: Type 1 diabetes mellitus (T1DM) is an autoimmune and inflammatory process and vitamin D (VD) is thought to reduce inflammation and prevent autoimmune destruction. Studies have shown that VD has an effect on insulin secretion and sensitivity in rats. And it has been shown that adult T2DM with normal levels of VD have decreased insulin requirements. Two prior studies in Turkey looked at the relationship between VD levels and daily insulin requirement in paediatric pa...

Background: Several studies show there may be a relationship between the use of continuous glucose monitoring systems (CGMS) and improved glycaemic control in patients with type 1 diabetes mellitus (t1dm).Objective and hypotheses: The purpose of this study was to determine if there is a significant correlation between the clinical (office based) use of short-term CGMS and improvement in glycaemic control in paediatric patients with t1dm.<p class="abs...

Background: In children with Prader-Willi Syndrome (PWS) on Growth Hormone treatment (GHT) bone age (BA) acceleration is often observed. Little is known on reasons and consequences.Objective and hypotheses: To quantify BA acceleration in pre-pubertal PWS children on GHT and to investigate how BA correlates with weight gain and age at onset of GHT. To assess how final height depends on pre-pubertal bone maturation, weight gain and age at onset of GHT....

Background: Klinefelter syndrome (KS) is a genetic disorder consisting in a variable number of additional X chromosomes in a male individual. KS patients can rarely develop peripheral precocious puberty (PPP) caused by extragonadal germ cell cancers (eGCCs) producing hormones with androgenic activity. KS patients are at higher risk for eGCC when compared to the healthy populationCase report: We report the case of M., a 8...

Background: Growth hormone (GH) treatment is indicated for children who are born small for gestational age (SGA) and fail to achieve sufficient catch-up growth during infancy and remain short throughout childhood.Aims: To evaluate the effect of GH treatment in a large, multicentric, Portuguese SGA children cohort and to analyze for correlation between GH treatment response and clinical factors.<str...

Background: Children born SGA are at risk of becoming short adults. Although most children born SGA show catch-up growth in the first 24 months of life, approximately 10% remain below the 3rd centile throughout childhood and adolescence. The available evidence shows that GH therapy can increase adult height in short children born SGA although long-term response is variable and closely related to the 1st year response.Aims:</stron...

Background: Thyroid hormones act via receptors (TRα; TRβ) encoded by separate genes (THRA, THRB). Mutations in THRA are a recently-recognised cause of Resistance to Thyroid Hormone alpha (RTHα), a disorder with tissue-specific hypothyroidism but near-normal thyroid function tests.Aim: We describe the youngest recorded case of RTHa, in a 2yr old boy with disproportionate short stature, ...

Background: Multiple factors may affect intrauterine growth leading to birth of children small for gestational age (SGA). The impact of subtle genetic alterations on both pre and post-natal growth is still largely unknown.Objective and Hypotheses: The aim of this study was to investigate the prevalence of CNVs in a cohort of SGA children with persistent short stature.Subjects and Methods</s...

Background: Resistance to thyroid hormone beta (THRβ) is a clinical spectrum which varies in presentation even between individuals with the same mutation. Life-threatening cardiac dysfunction is recognized in homozygous THRβ state but never reported in cases of inherited heterozygous THRβ defects.Aim: We report the first case of familial inherited heterozygous (THRB) beta mutation presenting with ...

Introduction: Premature adrenarche (PA) is usually define as the appearance of clinical signs of androgen action before the age of 8 years in girls and 9 years in boys, associated the serum DHEAS above 40µg/dl.Aims: 1) To characterize a population of prepubertal children with PA regarding birth weight, anthropometry, growth velocity, height difference, bone age, IGF1 and DHEAS. 2) To compare IgF1, bone age, growth v...