ESPE Abstracts

Background: Despite current treatment, girls and women with severe forms of 21OHD are exposed lifelong to a chronic excess of androgens and the secondary effects of suppressive corticoids, which make gene therapy (GT) an option to be explored.Objective: To evaluate the effect of human CYP21 gene transfer mediated by adeno-associated virus (AAV) in a Cyp21−/− mouse model.Methods: 17 adult <em...

Background: The variable presence of adrenal insufficiency (AI) due to hypocortisolemia (HC) in patients with thalassemia is well established; however, the prevalence of adrenocortical hypofunction (ACH) in the zona glomerulosa and zona reticularis of the adrenal cortex is unknown.Objective and hypotheses: To establish the prevalence of ACH, we examined the cortisol response to 1 μg- and 250 μg- ACTH tests, plasma aldosterone (A)/plasma renin a...

Background: Bi-allelic mutations of CYP21A2 encoding 21-hydroxylase are the most frequent cause of congenital adrenal hyperplasia (CAH). Non-classical CAH (NCCAH) or even just hyperandrogenism may be caused by mild or mono-allelic (single) heterozygous mutations of CYP21A2. These mutations are associated either with elevated basal or ACTH-stimulated levels of 17-hydroxyprogesterone (17OHP) in blood.Objective and hypotheses: The objective of this study wa...

Background: Micronutrients play a fundamental role not only in general health, but also in treatment and protection of various diseases. Selenium and iron are two of the five major elements, aside from vitamins, detected as anti-oxidant agents, widely used with the aim of preventing diseases.Objective and hypotheses: The purpose of this study is to evaluate serum levels of selenium and ferritin in acute infections of childhood.Meth...

Background: Co-occurrence of type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) denote variant of autoimmune polyglandular syndrome type 3 (APS3v). Thyroid autoimmunity in T1D was widely studied, but a few studies examined β-cell autoimmunity among AITD patients. Several susceptibility genes for APS3v have been identified: HLA class II, CTLA-4 and PTPN22 gene.Objective and hypotheses: To investigate β-cell autoimmunity and genetic poly...

Background: The etiology of Autoimmune thyroid diseases (AITDs), including Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) is multifactorial and involves genetic and environmental factors. Family and population studies confirmed the strong genetic influence and inheritability in the development of AITD. Possible sex-related differences in overexpression of the cytotoxic T-lymphocyte antigen 4 (CTLA4) gene, peptidyl arginine deiminase 4(PADI4) gene, the fat mass...

Background: Congenital isolated GH deficiency (cIGHD) is a rare genetic disease occurring mostly in consanguineous families. It is caused by hGH-1 gene deletion or GHRH – receptor mutations.Aim of study: To collect retrospectively size at birth, developmental mile stones, linear and head growth and pubertal development before and during hGH treatment.Subjects: The medical charts of 37/41 patients with cIGHD (21 m, 16 f) contai...

Background: Non-classical congenital adrenal hyperplasia (NCCAH) may present during childhood, adolescence or even adulthood with various degrees of hyperandrogenism. Diagnosis is established through tetracosactide (Synacthen®) test and genotyping. Cortisol insufficiency has rarely been described in NCCAH.Objective and hypotheses: To describe cortisol response to tetracosactide test in NCCAH patients.Method: Retrosp...

Introduction: Complete ALS deficiency (ALS-D), caused by inactivating mutations in both IGFALS gene alleles, presents severe IGF1 and IGFBP3 deficiencies associated to moderate growth retardation.Aim: To characterize the molecular defect in a family where the index case and his father presented short stature and IGF1 and IGFBP3 deficiencies.Methods: IGF1, IGFBP3, and GH serum levels were determined by CLIA, ALS by ELISA an...

Introduction: In India, newborn screening (NBS) for congenital hypothyroidism (CH) is not yet a national government policy. Preliminary information suggests neonatal TSH levels to be higher in expatriate Indian babies than those in European populations in developed countries.Objectives: To evaluate maternal urinary iodine and cord blood TSH in a subset of women participating in a postnatal NBS program for CH.Methods: Cord blood (CB...