hrp0086p2-p432 | Gonads & DSD P2 | ESPE2016

45,X/47,XYY Chromosomal Mosaicism as a Cause of 46,XY Disorder of Sex Development

Anik Ahmet , Kasikci Esma Tugba , Sahin Suzan , Unuvar Tolga , Turkmen Munevver Kaynak

45,X/47,XYY mosaicism is quite rare, and, like 45,X/46,XY, it can be associated with mixed gonadal dysgenesis, Turner syndrome or apparently normal male/female phenotype. An infant aged 16 days, born full-term via spontaneous vaginal delivery to a 32 year-old G1P1 woman. His pregnancy and perinatal period were both uncomplicated except for maternal long QT syndrome. There was third degree cousin consanguinity between the parents. There was no any virilizing drug use and no mat...

hrp0086p2-p941 | Thyroid P2 | ESPE2016

Celiac Disease in Children and Adolescents with Hashimoto Thyroiditis

Tuhan Hale , Isik Sakine , Abaci Ayhan , Simsek Erdem , Anik Ahmet , Anal Ozden , Bober Ece

Background: Hashimoto thyroiditis (HT) is part of the spectrum of autoimmune thyroid diseases and is characterized by the destruction of thyroid cells by various cell- and antibody-mediated immune processes.Objective and hypotheses: The aim of this study was to evaluate clinical and laboratory findings and determine the prevalence of celiac disease (CD) in children with HT.Method: A total of 80 patients with positive anti-thyroid a...

hrp0082p1-d2-246 | Thyroid (1) | ESPE2014

The Effect of L-Thyroxine Treatment on Left Ventricular Functions in Children with Subclinical Hypothyroidism

Catli Gonul , Kir Mustafa , Anik Ahmet , Yilmaz Nuh , Bober Ece , Abaci Ayhan

Background: Subclinical hypothyroidism (SH) is defined as an elevated serum concentration of TSH when serum free thyroxine (fT4) concentration is within its reference range. Impaired myocardial contractility in overt hypothyroidism and left ventricular (LV) diastolic dysfunction in adults with SH as well as beneficial effects of thyroid hormone replacement on systolic and diastolic functions in adults with SH has been documented, however the presence of similar alte...

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...

hrp0084p2-568 | Thyroid | ESPE2015

Levothyroxine Replacement in Primary Congenital Hypothyroidism: The Higher the Initial Dose the Higher the Rate of Overtreatment

Tuhan Hale , Abaci Ayhan , Cicek Gizem , Anik Ahmet , Catli Gonul , Demir Korcan , Bober Ece

Background: Congenital hypothyroidism (CH) is the most frequent endocrine disorder during neonatal period and delay in diagnosis and treatment leads to irreversible complications. A high L-thyroxine (LT4) dose is recommended for treatment, while the optimal starting dose is still a matter of debate.Objective and hypotheses: The objective of this study was to determine the effects of various starting doses of LT4 on se...

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...

hrp0084p3-794 | DSD | ESPE2015

A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome

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

Background: Androgen insensitivity syndrome is the most common cause of 46,XY disorders of sex development. This condition is inherited in an x-linked recessive pattern and the most common causes are inactivating mutations in the androgen receptor (AR) gene.Objective and hypotheses: In this study, we report a novel AR gene mutation in an adolescent patient presenting with primary amenorrhea.Method: A 16-year-old p...

hrp0084p3-1058 | Hypo | ESPE2015

Cystic Encephalomalacia and Infantile Spasm as a Complication of Transient and Mild Hyperinsulinemic Hypoglycemia

Anik Ahmet , Anik Ayse , Unuvar Tolga , Tosun Ayse Fahriye , Dursun Siar , Akcan Abdullah Baris , Durum Yasemin , Turkmen Munevver Kaynak

Background: Although it is known that hypoglycaemia could cause severe negative effects on brain development and also infantile spasm, it has not been reported that transient hyperinsulinaemic hypoglycaemia, which spontaneously improves over a short time, may cause infantile spasms. Infantile spasm is a disorder of early childhood typically seen in first year of life characterized by the occurrence of sudden, brief, generally bilateral and symetric motor spasms of muscles of t...