hrp0082lbp-d3-1016 | (1) | ESPE2014

The Diverse Phenotype of Mutations in T3 Receptor Alpha (TRα)

van Gucht Anja , Demir Korcan , Zwaveling Nitash , Wennink Hanneke , Buyukinan Muammer , Catli Gonul , Dundar Bumin Nuri , Meima Marcel , Visser Edward , van Trotsenburg Paul , Visser Theo , Peeters Robin

Background: Recently, the first patients with resistance to thyroid hormone (RTHα) due to inactivating mutations in TRα1 have been identified. These patients are characterized by growth retardation, delayed bone development, mild cognitive defects, delayed motor development and abnormal thyroid function tests.Objective and hypotheses: We hypothesized that the phenotype of a TRα mutation depends on its location, e.g. if it is present only i...

hrp0084p1-128 | Thyroid | ESPE2015

Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor α Mutations

Demir Korcan , van Gucht Anja , Buyukinan Muammer , Catli Gonul , Ayhan Yavuz , Bas Veysel Nijat , Dundar Bumin Nuri , Ozkan Behzat , Meima Marcel E , Visser W Edward , Peeters Robin P , Visser Theo J

Background: Recently, T3 receptor alpha (TRα) mutations have been identified in a number of patients with varying degrees of growth impairment, delayed development, constipation, increases in serum T3 and decreases in T4 and rT3.Objective: To determine the spectrum of clinical and functional consequences of novel TRα mutations.Method: Clinical assessment and biochemical, imaging...

hrp0094fc4.5 | Diabetes | ESPE2021

Molecular Genetic Diagnosis and Research of Candidate Genes by Targeted Next Generation Sequence Analysis and Whole Exome Sequencing Method in Monogenic Diabetes: MODY-TURK Project

Gokşen Damla , Evin Ferda , Işık Esra , Ozen Samim , Atik Tahir , Ozkınay Ferda , Akcan Neşe , Ozkan Behzat , Buyukinan Muammer , Ozbek Mehmet Nuri , Darcan Şukran , Onay Huseyin ,

Introduction: MODY; is a rare type of diabetes that occurs clinically and genetically due to a single heterogeneous gene defect. To date, 14 different genes have been identified. In order to develop a holistic genetic diagnosis approach to monogenic DM, it is aimed to investigate molecular genetic diagnosis and responsible candidate genes with targeted new generation sequence analysis and whole exome sequencing (WES) method.Metho...

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...

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...

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...

hrp0089rfc11.2 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Nationwide Hypophosphatemic Rickets Study

Siklar Zeynep , Turan Serap , Bereket Abdullah , Abacı Ayhan , Baş Firdevs , Demir Korcan , Guran Tulay , Akberzade Azad , Bober Ece , Ozbek Mehmet Nuri , Kara Cengiz , Poyrazoğlu Şukran , Aydın Murat , kardelen Aslı , tarım Omer , Eren Erdal , Hatipoğlu Nihal , Buyukinan Muammer , Akyurek Nesibe , Cetinkaya Semra , Bayramoğlu Elvan , Eklioğlu Beray Selver , Ucakturk Ahmet , Abalı Saygın , Gokşen Damla , Kor Yılmaz , Unal Edip , Esen Ihsan , Yıldırım Ruken , Akın Onur , Cay Atilla , Dilek Emine , Kırel Birgul , Anık Ahmet , Catlı Gonul , Berberoğlu Merih

Aim: Hypophosphatemic rickets (HR) is a rare renal phosphate wasting disorder commonly related to X-linked form, caused by PHEX mutations and it treatment and follow-up is challenging due to imperfect treatment options. Here we presented nationwide data on HR with initial and follow-up data on the patients presented to the pediatric endocrinology clinics before the age of 18 years.Results: From 24 centers, 158 patients (93 male/65 female) were i...

hrp0095rfc11.6 | Late Breaking | ESPE2022

Genotype, phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type IA (VDDR1a): A nationwide multicentre retrospective cross-sectional study

Cayir Atilla , Demirbilek Huseyin , Turkyılmaz Ayberk , Turan Serap , Bereket Abdullah , Darendeliler Feyza , Nuri Özbek Mehmet , Ünal Edip , Okdemir Deniz , Esen Ihsan , Eren Erdal , Yıldırım Ruken , Çetinkaya Semra , Cansu Sahin Kadriye , Anık Ahmet , Sena Dönmez Ayşe , Pınar Öztürk Ayşe , Bayramoğlu Elvan , Buyukinan Muammer , Gurbuz Fatih , Demir Korcan , Kılınç Suna , Betul Kaygusuz Sare , Çelmeli Gamze , Selvi Eklioglu Beray , Acar Sezer , Dursun Fatma , Turan Ihsan , Özkaya Beyhan , Kurnaz Erdal , Taner Baran Rıza , Özkan Behzat

Background: Vitamin D Dependent Rickets Type IA(VDDR1a) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25 dihydroxyvitamin D due to the mutations in the CYP27B1 gene encoding for the enzyme 1α-hydroxylase.Objective and hypotheses: To evaluatethe clinical characteristics, molecular genetics aetiology and long-term outcome of a large nationwide cohort of VDDR-Ia f...