ESPE Abstracts

CHOPS syndrome is a rare monogenic disorder caused by heterozygous gain-of-function variants in AFF4. The 13 patients reported to date share a highly recognizable phenotype: Coarse face, Cognitive impairment, Heart defects, Obesity, Pulmonary involvement, Short stature and Skeletal dysplasia. AFF4 encodes a scaffold protein involved in transcriptional elongation and critical for gene expression regulation during embryogenesis. Notably, it appears to regulate adipogenic differe...

Objectives: The aim of this study was to report on the frequency and describe the clinical characteristics of the ones diagnosed as thyroid cancer among all suspicious nodules diagnosed in the pediatric endocrinology department and to compare the findings with recent published literature.Methods: Retrospective study during the last 5 years. Patients aged <18 years, with suspected thyroid nodule malignancy, according t...

Introduction: Increased frequency of Grave’s disease (GD) has been reported both in adults and youth during the COVID-19 pandemic. Aim: To compare the frequency of GD prior and during the COVID-19 pandemic.Methods: Retrospective analysis of children diagnosed with GD over the last 13 years in our Department.Results: A total of 22 children (31.8% boys) with a mean age of 10.55...

Introduction: Growth depends on growth hormone (GH) secretion and on individual sensitivity to its action. The effects of birth parameters on growth and metabolic status are well documented in small-for-gestational-age children, but in children with GH deficiency those associations are not clear. Taking into account that GH-deficient children are not a homogenic group of patients, the importance of an individual approach to GH doses and the assessment of the e...

Background: Menarche is a significant event in the reproductive life of a woman and represents the late event in puberty indicating that a sexually immature child has become reproductively capable. Even though the timing of puberty onset is approximately conserved in different populations, the puberty starts across a wide range of ages in normal girls. However, in the last decades we are observing that girls are experiencing earlier breast development and earlier menarche, als...

Background: Hypospadias is a common malformation of male external genitalia, resulting in urethral displacement with different severity. Male genital development occurs during fetal development when also the brain is developing rapidly. Genital development is dependent on androgen effect, and androgens also have impact on gender development. We here explore whether hypospadias are associated with variation in other aspects of sex typical development.<p c...

Background: Coeliac disease (CD) can be associated with impaired growth in children after a prolonged period of Gluten-free diet (GFD). A small percentage of CD patients does not show catch-up growth during GFD because of GH secretion deficiency (GHD) that could be associated with antipituitary autoantibodies (APA).Objective and hypotheses: This study aims to evaluate the efficacy of recombinant human GH (rhGH) therapy on final adult height in children w...

Background: Ghrelin and obestatin are two gastrointestinal peptides obtained by post-translational processing of a common precursor, preproghrelin. mRNA expression for preproghrelin was found in autoimmune thyroid diseases (AITDs) in previous studies. There are papers, where a role of preproghrelin polymorphism on various immunological diseases was determined, but nothing is known about its influence on the AITDs.Objective and hypotheses: The aim of our ...

Introduction: The start of GH (rhGH) treatment in children with GH deficiency (GHD) causes a significant increase in bone turnover and increases height velocity. The increase in IGF1 concentrations during rhGH treatment is a marker of the efficiency of treatment. A significant increase in bone turnover during rhGH treatment results in an increased demand for vitamin D. It is important to determine proper supplementation doses of vitamin D in patients during catch-up growth.</p...

Background: The basic subset of T cells playing a major role in the pathogenesis of Hashimoto’s thyroiditis are CD8+T cells. The mechanism of disease initiation is dysfunction of natural Tregs leading to breakdown of the self-tolerance. The best known subset of natural Tregs are CD4+Foxp3+T, but CD8+T cells expressing CD122 were also recognized as functional Treg cells.Objective and hypotheses: The aimof the study was to evaluate the contribution of...