ESPE Abstracts

Background: 3-M syndrome is an autosomal recessive growth disorder characterised by severe prenatal and postnatal growth retardation caused by mutations in CUL7,OBSL1 or CCDC8.Clinical characteristics include dysmorphic facial features and skeletal abnormalities.Aim: Evaluation of clinical and molecular findings and the effect of growth hormone (GH) threrapy in seven patients with 3-M syndrome from five different familie...

Introduction: Short stature is a multifactorial condition caused by both genetic and environmental factors. Genetic causes include chromosomal disorders and diseases inherited by monogenic and multifactorial inheritance. The purpose of genetic evaluation in short stature is not only for diagnosis, but also to provide additional information to the patients and their families about prognosis of the disease, treatment approaches and genetic counseling.<p clas...

Introduction: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disease. The NF-1 gene is located on chromosome 17 and encodes a gene product called neurofibromin. Mutation or deletion of the NF-1 gene results in phenotypic features involving many systems. Hypophosphatasia is a group of inherited disorders characterized by impaired mineralization of bones and/or teeth and low serum alkaline phosphatase (ALP) activity. It occurs as a result of a loss-of-...

Endochondral bone formation regulates bone growth both during embryonic development and after birth. Several different autocrine/paracrine or hormonal mechanisms govern the regulation of endochondral bone formation. Among those is the pathway involving stimulatory G protein, which primarily mediates the actions of parathyroid hormone-related peptide (PTHrP) in the growth plate. PTHrP is synthesized in the perichondrial cells and chondrocytes at the end of bones. In the growing...

Background: Over 800 different mutations in GCK gene have been reported in the Human Gene Mutation Database, the vast majority of which result in monogenic diabetes (Maturity Onset Diabetes of the Young, MODY type 2). The missense mutation p.Leu122Val is listed in that database as "disease-causing". However, the National Center for Biotechnology Information ClinVar database (Variation ID 585919) reports that this mutation is of "uncertain ...

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, the interferon induced helicase domain 1 (IFIH1) gene, the TSH receptor (TSH-R) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association...

Introduction: SOFT-syndrome (#MIM 614783) is a rare condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis caused by POC1A gene mutations. Moreover, severe insulin resistance (IR) and metabolic disorders may also accompany. Hereby, we report two-patients with SOFT-syndrome, who had severe short stature and IR, with a novel POC1A mutation.Case Report: Patient 1 (P1), a 16-month ol...

Background: 17β-Hydroxysteroid Dehydrogenase3 (17b-HSD3) deficiency is a rare autosomal recessive disorder, caused by a mutation of the HSD17B3 gene. The phenotypic spectrum ranges from normal-appearing female external genitalia to microphallus with hypospadias and variable degrees of genital ambiguity. 17b-HSD3 deficiency phenotype is variable, leading to misdiagnosis especially with partial androgen insensitivity syndrome and 5alfa reductase deficiency.<p c...

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessively transmitted disease and 95% of CAH cases are due to 21-hydroxylase deficiency (21-OHD). There are more than 100 mutations that cause CAH due to 21-OHD and the clinical expression of the disease is reported to correlate with mutated alleles.The aim: The aim of this study was to investigate responsible mutations and then to evaluate genotype...

Introduction: HLA-G gene is involved in the control of immune response. It plays a primary role on immune tolerance and may participate in controlling autoimmune responses serving as a potential independent susceptibility marker. HLA-G has been isolated in some secretory granules and on the cell surface of primary islet cells induced to secrete insulin. Subsequently, it could be hypothesized that HLA-G methylation at pancreatic islet could sustain T cell activation and onset o...