hrp0092p1-248 | Multisystem Endocrine Disorders | ESPE2019

A Novel AIRE Gene Mutation in Two Siblings Revealing Different Phenotypes of Autoimmune Polyendocrine Syndrome Type 1

Yildiz Melek , Aydin Banu , Gezdirici Alper , Onal Hasan

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...

hrp0092p1-283 | Thyroid (1) | ESPE2019

Children with Hashimoto's Thyroiditis have Increased Intestinal Permeability: Results of a Pilot Study

Aydin Banu Kucukemre , Yildiz Melek , Akgun Abdurrahman , Dogan Beyza Belde , Topal Neval , Onal Hasan

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...

hrp0082p2-d3-357 | Diabetes (2) | ESPE2014

Early-Onset Autoinflammatory Partial Lipodystrophy Characterized by Recurrent Fever and Rash: Candle Syndrome

Demir Korcan , Yildiz Melek , Makay Balahan , Korkmaz Huseyin Anil , Elmas Ozlem Nalbantoglu , Ozkan Behzat

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...

hrp0082p2-d2-583 | Sex Development (1) | ESPE2014

Novel Mutation in a Newborn with a Rare Cause of 46,XY Sex Reversal: 17β- Hydroxysteroid Dehydrogenase Type 3 Deficiency

Demir Korcan , Yildiz Melek , Elmas Ozlem Nalbantoglu , Korkmaz Huseyin Anil , Ozkan Behzat

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...

hrp0094p1-127 | Growth A | ESPE2021

Evaluation of early puberty in boys and girls with Silver-Russell Syndrome: Discordance between testicular growth and pituitary-gonadal hormones in male cases

Yildiz Melek , Bas Firdevs , Karaman Birsen , Poyrazoglu Sukran , Basaran Seher , Darendeliler Feyza ,

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...

hrp0084p1-12 | Bone | ESPE2015

Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malign Infantile Osteopetrosis

Demir Korcan , Nalbantoglu Ozlem , Karaer Kadri , Korkmaz Huseyin Anil , Yildiz Melek , Tunc Selma , Ozkan Behzat

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,...

hrp0094p1-41 | Sex Endocrinology and Gonads A | ESPE2021

Phenotypic Characteristics of Patients with 45,X/46,XY Mosaicism: Growth, Gonadal Pathology and Tumour Risk

Poyrazoglu Sukran , Bas Firdevs , Karaman Birsen , Yildiz Melek , Basaran Seher , Darendeliler Feyza ,

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=...

hrp0089p2-p014 | Adrenals and HPA Axis P2 | ESPE2018

Frequency of Enzyme Deficiencies in a Turkish Cohort of Congenital Adrenal Hyperplasia: A Single-Center Experience with 145 Patients

Yildiz Melek , Onal Hasan , Aydin Banu , Akgun Abdurrahman , Dogan Beyza Belde , Topal Neval , Akcay Teoman , Adal Erdal

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...

hrp0086p2-p493 | Fat Metabolism and Obesity P2 | ESPE2016

Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents

Tunc Selma , Demir Korcan , Tukun F Ajlan , Topal Cihan , Hazan Filiz , Saglam Burcu , Nalbantoglu Ozlem , Yildiz Melek , Ozkan Behzat

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...

hrp0086p1-p554 | Perinatal Endocrinology P1 | ESPE2016

Clinical and Molecular Characteristics of Turkish Patients with Congenital Hyperinsulinism: A Single-Center Experience

Yildiz Melek , Akcay Teoman , Mutlu Neval , Akgun Abdurrahman , Onal Hasan , Ulucan Korkut , Ellard Sian , Flanagan Sarah E.

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...