ESPE Abstracts

Background: Heterozygous Aggrecan (Acan) mutations cause autosomal short stature (ISS) with advanced bone age, early-onset osteoarthritis and intervertebral disc disease (OMIM#165800) in humans. Cartilage matrix deficiency mouse (Acancmd) has a naturally occurring 7 bp micro-deletion in aggrecan gene. Heterozygous Acancmd mice develop postnatal dwarfism with progressing age. However, the underlying cellular and molecular mechanisms causin...

Background: Heterozygous loss-of-function mutations in the aggrecan gene (ACAN) cause autosomal dominant short stature with advanced bone age, early-onset osteoarthritis and intervertebral disc disease (SSOAOD; OMIM#165800). ACAN mutations is a relatively common finding in idiopathic short stature (ISS) and has been reported to be the cause of growth failure in approximately 2% of children with ISS. However, the underlying cellular and molecular mechanisms by ...

Introduction: Post-marketing surveillance registries provided extensive information about the safety and efficacy of daily growth hormone (GH) therapy during treatment. With the availability of novel long-acting GH (LAGH) therapies, it is important to determine whether the novel molecules or the different pattern of GH exposure lead to changes in the efficacy and safety profile. Therefore, new surveillance registries of LAGH are warranted.<p class="abstext...

Introduction: Although the safety and effectiveness of recombinant human growth hormone therapy (rhGH) has been reported for several years, the level of consensus on the outcomes that should be reported is unclear. The aim of this systematic review is to study the frequency of reporting of these outcomes in children with GH deficiency (GHD).Methods: A systematic review was performed in Medline, Embase, Cochrane Central R...

Introduction: The highest prevalence of children and adolescents with obesity in Europe is observed in the south countries. This epidemic is related to unhealthy eating patterns, decreased physical activity and increased inactivity.Objective: To determine the relationship between adiposity degree and physical activity and inactivity in children and adolescents.Methods: 338 children from 6 to 8 years of age (x=11.11 years);...

Introduction: Vitamin D defciency is a common health concern among all children world wide.together with the rapidly increased prevalence of diabetes mellitus\.This study was conducted to determine if diabetes is associated with increased risk of vitamin D deficiencydy examination the influences of diabetes effecting status on specific patients disease characteristics in regards to vitamin D level among children from saudi arabia.Methods: All retrospecti...

Background: Pituitary adenomas are rare in children. Most of them are found in adolescents. Macroadenomas and secreting adenomas are the most common. They can be sporadic, familial, belong to tumor syndromes and be associated with distinct genetic defects.Objective and hypotheses: Report phenotypic and genotypic characteristics of pituitary adenomas in children.Method: Eight children with pituitary adenoma were identified in 20 yea...

Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk alleles with small effect size, oligogenic effects may contribute to this phenotype. Exome sequencing was carried out in a tall male (height 3.5 SDS) and his parents. Filtered damaging variants with high CADD scores were validated b...

Background: Thyroid hormone disrupting chemicals (THDCs) which are present in the environment, food and everyday consumer products, interfere with thyroid hormone signaling, possibly by interacting with thyroid hormone receptors (THRs). This alters the thyroid hormone homeostasis and affects various functions regulated by the thyroid hormone e.g. macronutrient metabolism, cardiovascular function, and normal brain development. Therefore, there is a necessity for detection and m...

Background: Mutations in CYP21A2 are the most common cause of congenital adrenal hyperplasia (CAH). Even though disease linked mutations are rarely classified as founder, in this study, we describe a novel founder mutation, c.2T>C (p.M1?), inactivating the translation initiation codon.Objective and Hypotheses: We aimed to investigate genotype–phenotype correlation and population based origin of this novel mutation in CAH patients with 2...