ESPE Abstracts

Background: Sporadic pseudohypoparathyroidism type Ib (spor-PHP-Ib) is caused by GNAS methylation alterations with loss of imprinting at the exon A/B differentially methylated region (DMR), without genetic deletions disrupting the STX16 ICR. These patients classically display hormone resistance limited to PTH and TSH with no Albright hereditary osteodistrophy (AHO).Objective and hypotheses: We describe two cases with the same imprinting methylat...

Background: Adolescence is a critical period of life, and even more if a chronic illness is present like type 1 diabetes mellitus (T1DM). The healthy lifestyle practice is one of the pillars of the T1DM treatment.Objective and hypotheses: To evaluate the association between lifestyle and health related quality of life (HRQoL) in adolescents with T1DM.Method: Lifestyle and HRQoL were evaluated in 69 T1DM adolescents (34 male, mean a...

Background: Epidemiologic studies have shown strong associations between high carotenoids levels and reduced risk of developing various forms of cancer, cardiovascular system diseases, etc.Objective and hypotheses: Carotenoids are hydrophobic substances and are contained in blood in lipoprotein particles. Their conformation depends on their molecular environment. By evaluating the conformation of carotenoids we can obtain various information about the li...

Background: GH has a strong positive influence on bone stimulating both bone elongation and increase in size by enhancing the accrual of trabecular and cortical bone up to the attainment of peak bone mass in young adult.Aim of the study: We compared the effect of two different GH dosages on statural growth and bone geometry in two groups of GH-deficient children at final height. Data has been collected retrospectively from 1994 to 2013.<p class="abst...

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: Pancreatic epithelial cells represent an attractive cell source for replacement therapy of type 1 diabetes. Previously, we designed a protocol for expansion of human pancreatic duct-derived cells (HDDCs) and showed their β-cell engineering potential.Objective and hypotheses: In this study, we reprogrammed HDDCs into β-cell-like lineage by over-expressing mRNAs of key pancreatic transcription factors (TFs).Meth...

Background: Human GH is a heterogeneous protein hormone consisting of several isoforms, the most abundant being 22 kDa- and 20 kDa-GH. The availability of analytical methods to measure these GH isoforms might represent a valuable diagnostic tool to investigate GH secretion in short stature.Objective and hypotheses: Aim of the present study was to measure circulating levels of 22 kDa- and 20 kDa-GH in children with different diagnosis of short stature suc...

Objective and hypotheses: We studied the prevalence of deficiency in the short stature homeobox containing gene (SHOX) in short-statured children and analysed clinical and radiological signs.Method: A total of 162 children aged 1–17 years (53% females, 67% prepubertal, median age 6.6 years, median height SDS −1.7) presenting with short stature between 2008 and 2014, were analysed for SHOX mutations by direct sequencing and multiplex ligation p...

Background: The effects of recombinant GH therapy on development of oxidative stress and insulin resistance in girls with Turner syndrome (TS) were observed.Objective and hypotheses: The aim of this study is to examine the longitudinal relationships of oxidative stress markers with the development of insulin resistance during GH treatment in girls with TS.Method: Ten prepubertal girls (aged 12–14 years; median 13.0 years) with...

Introduction: Type 1 Narcolepsy is a rare pediatric condition characterized by central hypersomnia secondary to hypocretin deficiency. It can also involve the neuroendocrine axis, in particular determining obesity and central precocious puberty (CPP).Objectives: The primary aim of this study is the evaluation of endocrine and auxological aspects at diagnosis and during follow-up in children affected with T1N, in treatmen...