ESPE Abstracts

Newer studies have indicated that vitamin D has more widespread effects than the classical effects on bone and calcium-phosphate homeostasis. The presence of the vitamin D receptor (VDR) in the testis and male reproductive tract indicates a role for vitamin D in male reproduction. Indeed, vitamin D deficiency and global knock out models of VDR or CYP27B1 in rodents have shown that vitamin D and calcium are important regulators of male reproductive function. Several groups have...

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...

Background: The TRH receptor (TRHR) is a G-protein coupled receptor activated by hypothalamic TRH. In thyrotropes, TRH-TRHR signalling controls synthesis, secretion and bioactivity of TSH. Human TRHR defects are extremely rare, and only three cases are known with central hypothyroidism and short stature as variable presenting feature.Objective and hypotheses: Phenotypical characterization of a family with suspected central hypothyroidism and inv...

Background: Animal studies suggest a role of vitamin D in fetal lung development although not studied in preterm animals.Objective and hypotheses: We tested the hypothesis that vitamin D depletion does not aggravate respiratory insufficiency in preterm rat offspring. Furthermore, the effects of vitamin D depletion on growth and lung surfactant were investigated.Method: Female Sprague-Dawley rats were randomly assigned low vitamin D...

Introduction: Vitamin D deficiency in children is still a global health problem. Measuring free 25-hydroxyvitamin D concentrations could provide a better estimate of the vitamin D status than total 25-hydroxyvitamin D (25(OH)D) levels.Objective: To assess the relationship between measured free vitamin D (m-f25(OH)D) and calculated free 25(OH)D (c-f25(OH)D), total 25(OH)D, intact parathyroid hormone (iPTH) and other markers of phosphocalcic metabolism. Es...

Background: The low-dose short Synacthen test is a popular diagnostic test of adrenal insufficiency in children. It is employed by 82% of UK paediatric endocrinologists. Although various dosing strategies exist, 1 μg is most commonly employed, however none of the low-dose forms are commercially available. A BSPED survey revealed 14 different methods for diluting 250 μg/ml ampoules.Objective and hypotheses: Do various dilution strategies result ...

Background: In the vast majority of cases, achondroplasia and hypochondroplasia are attributable to hotspot missense mutations in the FGFR3 gene. 96% of patients have a G(1138)A and 3% have a G(1138)C point mutation. We report on a family whose members have a deep intronic mutation that leads to a novel cryptic splicing variant of the FGFR3 gene, and via this pathway results in new pathogenicity manifesting as achondroplasia.Case...

In this study, we conducted a clinical, genetic, and molecular profiling of a Han Chinese family with evident of matrilineally-inherited obesity. Obesity was evident in 2/6 matrilineal relatives in a single generation of this family (of 3 available generations). When the mitochondrial DNA of these individuals was sequences and a pedigree analysis was performed, we were able to identify a novel homoplasmic mutation of the mitochondrial tRNAGly gene (10029A>G) in t...

Background: Alterations in DNA methylation status of specific genetic loci may affect gene expression, thus leading to autoimmunopathies.Objective and hypotheses: This study aimed to investigate possible differences in DNA methylation pattern between type 1 diabetes mellitus (T1DM) youngsters and healthy controls.Method: Ten T1DM participants and 10 age-/gender-matched controls were enrolled. DNA was extracted from white blood cell...

Introduction: Differential diagnosis of thyroid hormone resistance (beta) and TSHoma should be made in patients with high free thyroxine (f-T4) and free triiodothyronine (f-T3) and non-suppressed thyroid stimulating hormone (TSH) levels. The aim of this study was to present the results of etiological research in a patient with Down syndrome who was clinically euthyroid and had high levels of f-T4, f-T3, normal TSH levels.Case</st...