hrp0084p3-1088 | Perinatal | ESPE2015

Leptin and Neuropeptide Y Levels in Newborns

Kaya Avni , Orbak Zerrin , Polat Ismail , Polat Harun , Gumusdere Musa

Background: Several studies have investigated leptin and NPY levels in children, but the information for newborns in the literature is limited.Objective and hypotheses: The aim of this study was to determine leptin and neuropeptide Y (NPY) levels in between 14 and 28-days newborns.Method: This prospective study was performed in the Erzurum Atatürk University Medical Faculty Research Hospital Neonatal Clinic, Turkey, between Ju...

hrp0084p3-1188 | Thyroid | ESPE2015

Intrathyroidal Ectopic Thymic Tissue Mimicking a Thyroid Nodule: A Report of Three Paediatric Cases

Karaguzel Gulay , Kaya Serpil , Eyupoglu Ilker , Turgutalp Havvanur , Okten Aysenur

Background: Intrathyroidal ectopic thymic tissue is one of the rarest congenital abnormalities. Ectopic thymus tissue can be detected in various locations from the mouth or the base of the skull to the superior mediasteneum. We report here three cases of intrathyroidal ectopic thymus tissue who presented as thyroid nodules in different ages.Cases: Case 1: a 10-year-old girl had a guatr and her thyroid function tests were normal. Thyroid US showed a hypoe...

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...

hrp0095p1-321 | Growth and Syndromes | ESPE2022

A Novel IGF2 Gene Variant of Paternal Origin Causing the Silver-Russell Syndrome Phenotype

Sarıkaya Özdemir Behiye , Sezer Abdullah , Savaş Erdeve Şenay , Çetinkaya Semra

Introduction: Silver-Russell syndrome (SRS) is a rare, well-defined genetic disease characterized by intrauterine and postnatal growth retardation, short stature, triangular face, relative macrocephaly and body asymmetry. The most common molecular pathologies are loss of methylation (50%) of the imprinting center in the p15.5 region of the paternal 11th chromosome and maternal uniparental disomy of the 7th chromosome (5-10%). The IGF2 (insulin-like growth fact...

hrp0095p1-184 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Cerebello- Oculo- Fascio-Genital Syndrome and Scrotal Agenesis with MAB21L1 Mutation; Case Report

Nalçacı Sinem , Döğer Esra , Kaya Cem , Mahmut Orhun Çamurdan , Bideci Aysun

Introduction: The most common congenital malformations of the scrotum are bifid scrotum, penoscrotal transposition, and ectopic scrotum. Scrotal agenesis is a very rare congenital anomaly characterized by the absence of scrotal rugae in the perineal tissue between the penis and anus. To date, 9 cases with complete scrotal agenesis have been described in the literature. Here, a case with complete scrotal agenesis with MAB21L1 homozygous mutation is presented to...

hrp0089p2-p027 | Adrenals and HPA Axis P2 | ESPE2018

Reference Values for Serum 17-alfa Hydroxyprogesterone and Adrenal Size in Healthy Newborns

Karaguzel Gulay , Eyuboğlu İlker , Ozdem Sebahat , Kader Şebnem , Kaya Serpil , Beyhun Ercument

Background and aims: The interpretation of serum 17α-hydroxyprogesterone (17OHP) results is difficult as age-related pediatric reference intervals are scant. The aim of this study is to determine the reference intervals for serum 17OHP according to sex and age groups in newborns. We also aimed to establish reference intervals for right and left adrenal gland sizes, and to evaluate the relation with adrenal size and serum 17OHP concentrations in newborns.<p class="abst...

hrp0086p1-p481 | Fat Metabolism and Obesity P1 | ESPE2016

The Relation of Glycaemic Variability Obtained by Continuous Subcutaneous Glucose Monitoring with IL-6 and Adiponectin Levels in Obese Children with Metabolic Syndrome and Insulin Resistance

Kaya Abdurrahman , Kocyigit Cemil , Catli Gonul , Can Penbe S. , Sutcu Recep , Dundar Bumin N.

Background: Increased glycaemic variability (GV) (short-term fluctuations in blood glucose level) is associated with increased oxidative stress, vascular complications and mortality in diabetic and prediabetic patients.Objective and hypotheses: To investigate the relationship between GV and inflammatory markers in obese children with metabolic syndrome (MS) and insulin resistance (IR).Method: Fifty obese adolescents with insulin re...

hrp0084p3-1084 | Perinatal | ESPE2015

Plasma Kisspeptin Levels of Infants Breast Growth in Neonatal Period

Kaya Avni , Orbak Zerrin , Polat Harun , Cayir Atilla , Erdil Abdullah , Doneray Hakan

Background: The studies investigating kisspeptin levels in the neonatal period is very limited.Objective and hypotheses: This study was intended to investigate plasma kisspeptin hormone levels in newborns with or without breast growth.Method: This prospective study was performed to determine plasma hormone levels of kisspeptin in patients admitted to the Erzurum Ataturk University Faculty of Medicine Research and Educational Hospit...

hrp0094p1-94 | Thyroid A | ESPE2021

Evaluation of children with intrathyroidal ectopic thymus

Ayca Cimbek Emine , Kaya Serpil , Eyuboğlu İlker , inc Hasan , Karaguzel Gulay ,

Background: Intrathyroidal ectopic thymus (IET), a benign lesion due to aberrant thymic migration during embryogenesis, is often discovered incidentally. Most of the reports in the literature describe individual cases or small series. We aimed to present the ultrasound (US) features, diagnostic methods, and follow-up of IET in children and adolescents.Methods: We searched our database of patients under 18 years old with ...

hrp0097rfc11.6 | GH and IGFs | ESPE2023

Evaluation Of The Growth Hormone-Insulin like Growth Factor1 Axis And Serum Fibroblast Growth Factor 21 Levels As Related To Stature In Children And Adolescents With Coeliac Disease Adherent To Gluten Free Diet

Kaya Fırat , Urgancı Nafiye , Merve Usta Ayşe , Çelik Sedanur , Uçar Ahmet

Background: Coeliac disease(CD)is a common cause of stunted growth. Despite adherence to gluten-free diet(GFD), short stature may persist in some patients with CD. Studies investigating the growth hormone(GH)-insulin like growth factor-1(IGF1) axis in children and adolescents withCDare scant and inconclusive. Fibroblast growth factor-21(FGF-21)is a181amino acid polypeptide that plays a role in growth, lipid and glucose metabolism. The inhibitory effects of FGF...