ESPE Abstracts

Introduction: Congenital central hypothyroidism (CCH) is a rare disease with inappropriate thyroid hormone secretion due to impaired TSH stimulation. TSH levels are not elevated; the patients are not diagnosed in TSH-based newborn screening. Biallelic variants in TRHR gene (encoding TRH receptor) are one of four genetic defects known to cause isolated CCH (THRH, THSB, IGSF1, TBL1X). The phenotype is variable but generally mild (neon...

Up to 50% of children born SGA at 2 years have not made a correct catch up (by excess or defect), with repercussions on size, metabolic and cardiovascular alterations, DM, etc. The Project has developed a prospective cohort of SGA and seeks to study phenotypic, BQ and genetic differences that explain their different behavior.Material and methods: We study live births of single pregnancies in our Hospital during 2012–2014, and are classified accordin...

Background: The inheritable component of familial Papillary Thyroid Cancer (fPTC) was recently attributed to monogenic defects in a reduced number of genes including DICER1. DICER1 codes for a ribonuclease of the RNaseIII family essential for the biogenesis of microRNAs.Objective and hypotheses: We aimed to identify germline and/or somatic mutations in DICER1 in a familial pedigree with PTC, multinodular goiter (MNG) and other ...

Background: Imprinted genes are known to regulate fetal growth and a ‘parental conflict’ model predicts that paternally and maternally expressed imprinted genes promote and inhibit fetal growth, respectively. GNAS is a complex imprinted locus with multiple oppositely imprinted gene products. Maternal, but not paternal, G(s)alpha mutations lead to obesity in pseudohypoparathyroidism type IA (PHPIA). However, the disorder rarely causes severe obesity in infancy as pred...

Background: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by hyperphosphatemia and abnormal deposit of phosphate and calcium most often around the hips, shoulders and elbows and rarely in the brain.Case presentation: A four-year-old-girl from Arabian origin was referred to the regional paediatric endocrine clinic from the Orthopedics Team due to: recurrent calcinosis of the right calcaneus and incipient left wrist pain...

Objective: To assess health-related quality of life (HRQOL) in a cohort of children and adolescents with type 1 Diabetes (T1DM) and its associated factors.Methods: This was a descriptive study of 136 patients with T1DM from five hospitals in Catalonia, Spain (72 girls, mean age 13.4 years (range 8–19). Inclusion criteria were more than 6 months from diagnosis, more than 8 years old and without cognitive problems. Sociodemographic (age, sex, family l...

Background: Excessive energy intake and rapid weight gain early in life are associated with obesity, type 2 diabetes, hepatic steatosis and other features of the metabolic syndrome. The monoacylglycerol acyltransferase (MGAT) is an enzyme involved in an alternative pathway for triglyceride (TAG) synthesis and storage. It has been recently proposed to have potential implications in the pathogenesis of hepatic insulin resistance (IR).Objective: To understa...

Up to 50% of children born SGA to 2 years have not made a proper catch up (by excess or defect), with repercussions in size, metabolic and cardiovascular disorders, DM, etc. epiPEG-PreMeb project to study during their first two years of life.Goals:: Establish a SGAcohort for monitoring, evaluation catch-up, and analysis of medium-environmental and social factors. To study the influence of these variables on clinical, laboratory and metabolic profiles. So...

Background: Thyroid function in preterm infants is often altered for various reasons. LBW or VLBW newborns frequently present a particular form of congenital hypothyroidism (CH) characterized by low FT4 and delayed TSH elevation. The incidence of this disease is 1:250 for VLBW babies and 1:1589 for LBW newborns. In this condition, neonatal screening based solely on TSH can miss the diagnosis, therefore some screening programs have proposed to repeat the screening te...

Background: Muscle is key to glucose metabolism. Myogenesis is completed in early infancy, partly under the inhibitory control of myostatin, a myokine whose actions can be influenced by follistatin. Early lowering of myostatin actions is thus a potential strategy to reduce the risk for later diabetes.Objective and hypotheses: We performed a first screening of whether such lowering is among the natural mechanisms whereby some human infants augment their l...