ESPE Abstracts

Background: Cystic fibrosis-related diabetes (CFRD) is a common complication in cystic fibrosis (CF). CFRD symptoms and treatment may impose additional burden and adversely affect their QoL.Objective and hypotheses: Assess HRQoL in CF children with normal glycaemia (CFN) and CFRD and evaluate the change in HRQoL over 1 year period along with clinical changes.Method: A prospective study was undertaken including children aged 10&#150...

Background: Implementation of neonatal screening programs for congenital hypothyroidism (CH) has reduced related nosologies and has eradicated CH-associated mental impairment. With the decrease of the TSH cut-off limits employed to avoid false negative results, milder cases of CH are diagnosed. Obviously, in a number of patients, especially among milder CH cases, thyroid dysfunction is transient. The diagnosis of transient vs. permanent CH is established in time. No specific p...

Background: Few studies have described the phenotypic spectrum of Septo-Optic Dysplasia (SOD). The aim of this study was to evaluate the range of H-P structural abnormalities and the endocrine morbidity of children with SOD and related disorders.Methods: Retrospective longitudinal single centre study of children with SOD (n:171), Multiple Pituitary Hormone Deficiency (MPHD) (n:53) and Optic Nerve Hypoplasia (ONH) (n:35).<p class="ab...

Background: Protein subfamilies within the Nuclear receptor (NR) family share common domain architecture. These closely related receptors and their cognate ligand compounds play a key role in homeostasis, reproduction, growth, and development. Despite their biological significance, their evolution and diversification remains to be elucidated. SNPs and mutations are characterized by the permanent alteration of the nucleotide sequence in the genome of an organism. These alterati...

Background: Since the initiation of neonatal screening programs for Congenital Hypothyroidism (CH) in the 1970’s, a gradual decrease of TSH cut-off limits has been observed worldwide. Nevertheless, lack of universal consensus has led to wide variation of cut-off limits and LT4 therapy criteria among screening programs, even within the same country. The Greek neonatal CH screening program is carried out by a single laboratory that uses one of the lowest cut-off limits worl...

Background: The term Congenital Hypothyroidism (CH) describes children with subnormal thyroid hormone levels present at birth. According to literature, CH has an incidence of ~1:1500–1:3000 births with a clear predominance of females (female:male ratio 2:1) and is mainly caused by thyroid dysgenesis (80%). Low FT4 levels have been used as important criteria for CH diagnosis and treatment initiation. The Greek neonatal CH screening program has followed the TSH cut-off lowe...

Background: A high frequency of extrathyroidal congenital anomalies has been reported in infants with congenital hypothyroidism (CH) detected by neonatal screening. Current ESPE guidelines suggest that congenital malformations, underlying dysmorphic syndromes and psychomotor and language development should be sought for and monitored in CH patients. The identification of co-existing nosologies and malformations is helpful not only for clinical purposes but also for uncovering ...

Background: Some IGFALS variants have been reported in more than one ALS-deficient family raising the question whether they originated from a single common ancestor allele (founder effect) or alternatively, as independent mutational events (hot spot). Since c.103dupG (p.E35Gfs*17) is located in a stretch of five consecutive guanine residues, where both G-duplication and deletion have been described in several families, we speculate that this region could be a hot spot...

Background: Mutations in the nicotinamide nucleotide transhydrogenase (NNT) gene are a rare cause of primary adrenal insufficiency (PAI), as well as cardiomyopathies and functional impairment of the gonads.Objective: Despite the description of different NNT mutations in homozygosis and compound heterozygosis in PAI patients, it remains to be clarified to which extent the function and expression of the m...

Introduction: Debate still exists about the safety of long-term use of prednisone (P) versus hydrocortisone (HC) for treating children with congenital adrenal hyperplasia -21OH D (CAH).Aim: To investigate the linear growth and weigh gain as well as metabolic component in children with CAH who were treated with either HC or P since early infancy for 5 years or more.Methods: Data of ...