hrp0086p1-p913 | Thyroid P1 | ESPE2016

Nerve Conduction Studies in Children with Subclinical Hypothyroidism

Catli Gonul , Yis Uluc , Tuhan Hale Unver , Ayanoglu Muge , Hiz Semra , Bober Ece , Abaci Ayhan

Background: Although contradictory results regarding neuromuscular functions have been reported in adults with subclinical hypothyroidism (SH), there is no study evaluating neuromuscular functions in children with SH.Objective and hypotheses: To assess neuromuscular functions using nerve conduction studies in children with SH.Method: Twenty-six children (5–18 years) with SH were enrolled in the study. Neuromuscular functions w...

hrp0082p3-d1-765 | Fat Metabolism & Obesity | ESPE2014

The Relation of Serum Leptin and Soluble Leptin Receptor Levels with Metabolic and Clinical Parameters in Obese and Healthy Children

Catli Gonul , Anik Ahmet , Tuhan Hale Unver , Kume Tuncay , Bober Ece , Abaci Ayhan

Background: In blood, leptin is suggested to circulate both in the free form as well as bound to soluble leptin receptor (sLR) and possibly also to other as yet unidentified binding protein. However, the role of the sLR in the regulation of the physiological function of leptin is until now unclear.Objective and hypotheses: We aimed to investigate the relation of serum leptin and sLR levels with metabolic and anthropometric parameters in obese and healthy...

hrp0082p3-d2-831 | Growth (1) | ESPE2014

Recovery of Central Fever After GH Therapy in a Patient with GH Deficiency Secondary to Posttraumatic Brain Injury

Tuhan Hale Unver , Anik Ahmet , Catli Gonul , Abaci Ayhan , Bober Ece

Background: Hypopituitarism, which is a heterogeneous disorder with diverse underlying etiologies, has been increasingly recognized following traumatic brain injury.Objective and hypotheses: In some patients, central fever associated with GH deficiency have been rarely reported. In this case report we presented a case with central fever associated with GH deficiency.Method: A 7-year-old boy, who was involved in a traffic accident, ...

hrp0084p2-358 | Fat | ESPE2015

Elevated Serum Irisin Level is not Related to Metabolic and Anthropometric Parameters in Obese Children

Abaci Ayhan , Catli Gonul , Tuhan Hale Unver , Anik Ahmet , Kume Tuncay , Calan Ozlem Gursoy , Bober Ece

Background: Irisin is a newly discovered myokine which regulates energy metabolism and obesity (type 2 diabetes pathogenesis). However, results of the clinical studies investigating the relation of irisin with metabolic and anthropometric parameters remain controversial, and studies in obese children are limited.Objective and hypotheses: We aimed to investigate the relation of serum irisin level with metabolic and anthropometric parameters in obese child...

hrp0084p3-789 | DSD | ESPE2015

A Novel Mutation in Steroidogenic Factor Gene in a Patient with 46, XY DSD without Adrenal Insufficiency

Anik Ahmet , Catli Gonul , Abaci Ayhan , Tuhan Hale Unver , Onay Huseyin , Aykut Ayca , Bober Ece

Introduction: Steroidogenic factor-1 (SF1/NR5A1) is a nuclear receptor, which regulates genes that have functions in the development of adrenal glands and gonads, reproduction, and other metabolic functions.Case presentation: A 20-day-old infant was admitted due to ambiguous genitalia. Physical examination revealed a 2×1 cm phallus, bifid scrotum, and hypospadias. Both gonads were palpable in the inguinal canal. Serum levels of adrenal androgens (17...

hrp0082p1-d2-77 | Diabetes (1) | ESPE2014

Molecular Genetic Analysis of Maturity Onset Diabetes of the Young (Mody) Genes in Children by Using Targeted Next-Generation Sequencing

Anik Ahmet , Catli Gonul , Tuhan Hale Unver , Abaci Ayhan , Korkmaz Huseyin Anil , Ozkan Behzat , Sari Erkan , Yesilkaya Ediz , Altincik Ayca , Kizildag Sefa , Bober Ece

Background: MODY is an autosomal dominant inherited type of diabetes with significant genetic heterogeneity. To date, there are mutations in more than ten different genes that result in the MODY phenotype and new mutations causing MODY are still being found.Objective and hypotheses: In this study, we aimed to perform a molecular analysis of pediatric MODY patients by next-generation sequencing which enables the simultaneous analysis of multiple genes in ...