hrp0092p1-285 | Thyroid (1) | ESPE2019

Evaluation of Thyroid Function Tests in Children with Chronic Liver Diseases

Ön S.Sebnem , Acar Sezer , Demir Korcan , Abaci Ayhan , Öztürk Yesim , Çelik Sinem Kahveci , Böber Ece

Backgrounds/Aims: Studies related to changes in thyroid hormone metabolism in the course of chronic liver diseases have been conducted mostly in adults. In this study, we aimed to investigate the thyroid dysfunction in childhood chronic liver diseases.Methods: Between 2005 and 2018, 960 chronic liver disease patient file that followed in our gastroenterology department are reviewed. Among all study subjects, 107 (53 fema...

hrp0092p2-284 | Thyroid | ESPE2019

Papillary Thyroid Cancer Associated with Hyperthyroidism

Acar Sezer , Paketçi Ahu , Demir Korcan , Ates Oguz , Özer Erdener , Özdogan Özhan , Böber Ece , Abaci Ayhan

Introduction: The most common causes of hyperthyroidism in the pediatric age group are autoimmune conditions (Graves' disease or Hashitoxicosis). Hyperfunctioning thyroid carcinomas are rarely reported. In this case report, we present a 17-year-old girl who was diagnosed with papillary thyroid carcinoma upon testing for hyperthyroidism.Case: A 17-year-old girl had presented to another center with a 1-month history of...

hrp0092p3-198 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

A Rare Cause of Hypogonadotropic Hypogonadism: FGFR1Mutation

Mert Erbaş İbrahim , Paketçi Ahu , Acar Sezer , Kotan Damla , Demir Korcan , Abaci Ayhan , Böber Ece

Introduction: Mutations in FGFR1, which is involved in formation and migration of neurons responsible for the production of gonadotropin-releasing hormones, may either cause isolated hypogonadotropic hypogonadism (HH) or Kallmann syndrome (KS). In addition, FGFR1mutations were reported in 2.7% of the cases with multiple pituitary hormone deficiency.Case: A 16-year-old male was referred to our clinic...

hrp0092p3-250 | Thyroid | ESPE2019

Evaluation of Clinical, Demographic Data and Treatment Results of Cases with Graves' Disease

Aldemir Sönmez Alev , Mert Erbaş İbrahim , Paketçi Ahu , Acar Sezer , Demir Korcan , Böber Ece , Abaci Ayhan

Introduction: Graves' disease is the most common cause of hyperthyroidism in children and adolescents, characterized by development of stimulant antibodies against thyrotropin (TSH) receptors. Environmental and genetic factors are thought to be responsible in triggering autoimmunity.Materials and Methods: Twenty-nine cases, with Graves' disease diagnosed in Pediatric Endocrinology clinic between January 1999 and ...

hrp0089p1-p142 | GH & IGFs P1 | ESPE2018

Growth Hormone Deficiency due to Whole-Gene Deletion of GHRHR

Acar Sezer , Demir Korcan , Kırbıyık Ozgur , Paketci Ahu , Murat Erdoğan Kadri , Abacı Ayhan , Bober Ece

Introduction: Various types of mutations in GHRHR cause isolated growth hormone deficiency type 1B. Here, we report the clinical features associated with deletion of whole GHRHR gene for the first time.Case: A four-year–and-nine-month-old otherwise healthy girl was admitted due to short stature. She was born at term with a birthweight of 3750 gr. Her height velocity slowed down after 2 years of age. The mother (157.8 cm, −0.8...

hrp0089p3-p353 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

A Novel Compound Heterozygous Mutation in CYP19A1 Resulting in Aromatase Deficiency with Normal Gonadotropin Levels and Ovarian Tissue

Acar Sezer , Paketci Ahu , Onay Huseyin , Cankaya Tufan , Gursoy Semra , Ozhan Bayram , Abacı Ayhan , Ozer Erdener , Olguner Mustafa , Bober Ece , Demir Korcan

Introduction: Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease. It is characterized by impaired estrogen production, increased gonadotropins, and ovarian cysts. Herein, we report a clinical phenotype of the virilized female due to a novel compound heterozygous mutation in CYP19A1.Case report: A 4-month-old girl was referred due to cliteromegaly. Her mother had developed acne, hair loss,...

hrp0089p2-p395 | Thyroid P2 | ESPE2018

Serum Level of Biotin Rather than the Daily Dose is the Main Determinant of the Interference on Thyroid Function Assays in Patients with Biotinidase Deficiency

Paketci Ahu , Kose Engin , Calan Ozlem Gursoy , Acar Sezer , Teke Pelin , Demirci Ferhat , Abacı Ayhan , Demir Korcan , Arslan Nur , Bober Ece

Introduction: High doses of biotin are reported to cause incorrect results in various immunoassays in some patients. However, there is no systematic study regarding biotin interference in childhood.Aim: To assess thyroid function with different methods in subjects with biotinidase deficiency, to determine the factors causing interference, and to investigate the efficiency of the methods for overcoming interference.Method: The study...

hrp0086p1-p125 | Bone & Mineral Metabolism P1 | ESPE2016

Spectrum of the Genetic Defects in Hypophosphatemic Rickets in A Group of Turkish Children

Acar Sezer , Al-Rijjal Roua A. , Demir Korcan , Kattan Walaa E. , Catli Gonul , BinEssa Huda , Abaci Ayhan , Dundar Bumin , Zou Minjing , Kavukcu Salih , Meyer Brian , Bober Ece , Shi Yufei

Background: There exists limited data regarding genetic etiology of hypophosphatemic rickets in Turkey.Objective and hypotheses: To investigate the type of genetic defect in 16 index children and their families (12 unrelated, 1 related).Method: Following clinical and laboratory assessment, PHEX analysis was made initially unless a mutation in another gene was suspected. If negative, FGF23, SLC34A3, SL...

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...

hrp0084p2-239 | Bone | ESPE2015

Novel CYP27B1 Gene Mutations in Children with Vitamin D-Dependent Rickets Type 1A

Demir Korcan , Kattan Walaa E , Zou Minjing , Durmaz Erdem , BinEssa Huda , Nalbantoglu Ozlem , Al-Rijjal Roua A , Meyer Brian , Ozkan Behzat , Shi Yufei

Background: The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause a rare autosomal recessive disorder, vitamin D-dependent rickets type 1A.Objective and hypotheses: To investigate CYP27B1 mutations in children when rickets was associated with normal or high vitamin D levels and low or inappropriately normal calcitriol levels.Method: All coding exons and intron-exon boundari...