ESPE Abstracts

Background: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autoimmune disease characterized by chronic mucocutaneous candidiasis, hypoparathyroidism and primary adrenal insufficiency. Minor components of the disease are diverse among patients, even within the same family. APS-1 is autosomal recessively inherited and caused by biallelic mutations in the autoimmune regulator (AIRE) gene.Objective and Hypotheses...

Background: Both genetic and environmental factors serve as the trigger of Hashimoto's thyroiditis (HT), but the exact mechanisms are still not fully understood. Increased intestinal permeability was shown to be a constant and early feature of several autoimmune disorders. Although HT is the most common autoimmune disorder worldwide, the role of intestinal permeability in its pathogenesis had received little attention. Human zonulin modulates intracellular...

Background: CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) syndrome is a recently described autoinflammatory disease that manifests in early infancy with recurrent fever, violaceous swelling of the eyelids, purpuric skin lesions, hypochromic anemia and elevated acute phase reactants. It is autosomal recessively inherited and associated with partial lipodystrophy, growth retardation and hepatomegaly. PSMB8 (proteasome subu...

Background: 17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency is a rare cause of 46,XY sex reversal due to a defect in conversion of androstenedione to testosterone. It is autosomal recessively inherited and caused by mutations in 17HSD3.Objective and hypotheses: To define clinical and laboratory characteristics of 17β-HSD3 deficiency during neonatal period.Method: An 8-day-old newborn with female externa...

Background: In Silver-Russell Syndrome (SRS), it is known that puberty starts early, frequency of premature adrenarche increases and adrenarche progresses aggressively. However, data regarding gonadal functions and testicular development in males during pubertal period is still insufficient.Methods: Twenty-four cases (9F, 15M) who were followed-up with diagnosis of SRS between 1990-2020 were included in the study. The di...

Aim: Osteopetrosis is caused by autosomal mutations occurring in nine genes (TNFRSF11A, TNFSF11, TCIRG1, CLCN7, OSTM1, SNX10, PLEKHM1, CA2, and LRP5). Detecting the aetiology and providing genetic counselling via individual mutation analysis of all these genes is expensive and time consuming. Whole exome sequencing is currently increasingly used given that the cost and the time needed are similar to that of single gene sequencing analysis. Here, two newborns,...

Background: The 45,X/46,XY mosaicism represents a wide spectrum of phenotypes, from phenotypically normal females to males and varying degrees of genital ambiguity. Growth seems to be impaired in these patients. It is associated with increased risk of germ cell tumours.Aim: To evaluate growth, gonadal function and tumour risk in a large group of children with 45,X/46,XY mosaicism in a single tertiary centre.<p class=...

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by a defect in any of the enzymatic steps of adrenal steroidogenesis. It occurs due to mutations in genes that encode enzymes involved in the synthesis of cortisol from cholesterol. The most common cause is 21-hydroxylase deficiency, with 11-beta hydroxylase, 3-beta hydroxysteroid dehydrogenase, 17-alpha hydroxylase and POR deficiency being among rarer causes.Objec...

Background: Melanocortin-4 receptor (MC4R) mutations are the most common known cause of monogenic obesity but there is no data for Turkish children.Objective: To determine the prevalence of MC4R mutations in a group of Turkish morbid obese children and adolescents.Method: MC4R gene was sequenced in 47 consecutive morbidly obese children and adolescents (28 girls and 19 boys, aged 1–18 years) who presented dur...

Background: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia which needs a prompt diagnosis and relevant treatment to avoid brain damage. So far, mutations in 11 key genes are known to cause monogenic forms of HI.Objective and hypotheses: The aim of this study was to characterize the clinical and molecular features of Turkish congenital HI patients and analyze the genotype/phenotype correlations.M...