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...

hrp0082fc14.2 | Puberty | ESPE2014

Infancy Growth Rate Predicts Timing of Puberty Both in Girls and Boys

Aydin Banu Kucukemre , Devecioglu Esra , Kisabacak Sezin , Kadioglu Alev , Gokcay Gulbin , Bas Firdevs , Poyrazoglu Sukran , Bundak Ruveyde , Saka Nurcin , Darendeliler Feyza

Introduction: Rate of weight gain during early childhood may have an effect on timing of puberty in girls. Biological mechanisms underlying this condition are not fully understood. Studies examining this association in boys report contradictory results. Our aim was to examine the effects of growth rate during the first years of life on the onset of puberty both in girls and boys.Description of methods: 159 children aged between 6 and 9 years who were att...

hrp0082p1-d3-12 | Adrenals & HP Axis (1) | ESPE2014

Adrenal Rest Tumors in Patients with Primary Adrenal Insufficiency

Abali Zehra Yavas , Saka Nurcin , Erol Oguz Bulent , Aydin Banu Kucukemre , Guran Tulay , Bas Firdevs , Poyrazoglu Sukran , Bundak Ruveyde , Darendeliler Feyza

Background: Gonads containing adrenal rests may enlarge in response to chronic overstimulation by ACTH in diseases with ACTH hypersecretion such as poorly controlled congenital adrenal hyperplasia (CAH), Addison’s disease and Nelson’s syndrome. Testicular adrenal rest tumors (TART) are present in childhood in CAH patients and frequency in adults may be up to 50–95%. Ovarian adrenal rest tumors (ART) are less frequently detected. TART is decribed less in patients...

hrp0082p2-d3-613 | Turner Syndrome | ESPE2014

Nationwide Study of Turner Syndrome During Childhood in Turkey: Evaluation of Associated Problems

Yesilkaya Ediz , Darendeliler Feyza , Bereket Abdullah , Bas Firdevs , Poyrazoglu Sukran , Aydin Banu Kucukemre , Darcan Sukran , Dundar Bumin , Buyukinan Muammer , Kara Cengiz , Sari Erkan , Adal Erdal , Akinci Aysehan , Atabek Mehmet Emre , Demirel Fatma , Celik Nurullah , Ozkan Behzat , Ozhan Bayram , Cinaz Peyami , Pediatric Endocrinology Turner Study Group

Background: Turner syndrome is one of the most common chromosomal disorders and is seen in 1:2500 female live births. The disease manifests with various clinical features and can be classified according to karyotype as monosomy, mosaicism, numeric, and structural abnormalities.Objective and hypotheses: Patients with Turner syndrome have complicated with various manifestations congenital or acquired. In this study we aimed to emphasise the importance of a...

hrp0084p1-144 | Miscelleaneous | ESPE2015

Primary Adrenal Insufficiency in Children without Congenital Adrenal Hyperplasia: Molecular and Clinical Characterisation of a Nationwide Cohort

Guran Tulay , Buonocore Federica , Saka Nurcin , Ozbek Mehmet Nuri , Aycan Zehra , Bereket Abdullah , Bas Firdevs , Darcan Sukran , Bideci Aysun , Turan Serap , Guven Ayla , Tarim Omer , Agladioglu Sebahat Yilmaz , Atay Zeynep , Ozen Samim , Demir Korcan , Akinci Aysehan , Aydin Banu Kucukemre , Buyukinan Muammer , Yuksel Bilgin , Yildiz Metin , Akcay Teoman , Kara Cengiz , Ozgen Tolga , Catli Gonul , Isik Emregul , Bolu Semih , Ozhan Bayram , Gurbuz Fatih , Ucar Ahmet , Demirbilek Huseyin , Abali Zehra Yavas , Doger Esra , Eren Erdal , Berberoglu Merih , Hacihamdioglu Bulent , Achermann John C.

Background: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires accurate diagnosis and urgent treatment. Congenital adrenal hyperplasia is the most common cause of PAI in children. Non-CAH causes of PAI are relatively rare. Although several molecular causes have been found, it is emerging that considerable overlap in the clinical and biochemical features of these conditions exists.Objective and hypotheses: We inv...

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...

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...

hrp0082p2-d1-263 | Adrenals & HP Axis | ESPE2014

Genotype and Phenotype Characteristics of Patients with Nonclassical Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency

Tombalak Nese Akcan , Uyguner Oya , Toksoy Guven , Karakilic Esin , Aydin Banu , Bas Firdevs , Saka Nurcin , Poyrazoglu Sukran , Bundak Ruveyde , Kayserili Hulya , Darendeliler Feyza

Background: Nonclassical congenital adrenal hyperplasia (NCAH), which is generally presented with symptoms of androgen excess, is inherited autosomal recessive due to different kind of mutations in the CYP21A2. Recently, high frequency of copy number variations at CYP21A2 gene and predisposition of heterozygous duplicated CYP21A2 for de novo gene aberrations has been reported.Objective and hypotheses: To evaluate clini...

hrp0084p3-1233 | Turner | ESPE2015

Growth Curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group

Darendeliler Feyza , Bereket Abdullah , Bas Firdevs , Bundak Ruveyde , Sari Erkan , Aydin Banu K , Darcan Sukran , Dundar Bumin , Buyukinan Muammer , Kara Cengiz , Mazicioglu Mumtaz M , Adal Erdal , Akinci Aysehan , Atabek Mehmet E , Demirel Fatma , Celik Nurullah , Ozkan Behzat , Simsek Enver , Cinaz Peyami , Group Turner Syndrome Study

Background: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population specific growth charts for TS.Objective and hypotheses: Considering national and ethnic differences, we undertook this multicentered collaborative study to construct growth charts and reference values for height, weight, and BMI from birth to adulthood for spontaneous growth of Turkish girls w...

hrp0084p3-1243 | Turner | ESPE2015

Anthropometric Findings from Birth to Adulthood in Turkish Girls with Turner Syndrome and Association with Karyotpye Distribution

Sari Erkan , Bereket Abdullah , Yesilkaya Ediz , Bas Firdevs , Bundak Ruveyde , Aydin Banu K , Darcan Sukran , Dundar Bumin , Buyukinan Muammer , Kara Cengiz , Adal Erdal , Akinci Aysehan , Atabek Mehmet E , Demirel Fatma , Celik Nurullah , Ozkan Behzat , Ozhan Bayram , Orbak Zerrin , Ercan Oya , Study Group Turner Syndrome

Background: Turner syndrome (TS) can manifest with various clinical features depending on the karyotype and the genetic background of affected subjects.Objective and hypotheses: The aim of this study was to evaluate growth parameters from birth to adulthood in girls with TS in a cross-sectional study.Method: A total of 842 patients, with an age of diagnosis ranging from birth to 18 years followed-up between 1984 and 2014, from 35 d...