hrp0092p3-124 | Fat, Metabolism and Obesity | ESPE2019

Early Onset Monogenic Obesity: Two Cases with Homozygous Mutation in Lepr Gene

Nalbantoglu Ozlem , Acar Sezer , Koprulu Ozge , Arslan Gulcin , Ozkaya Beyhan , Hazan Filiz , Gursoy Semra , Ozkan Behzat

Introduction: Although the majority of the cases with obesity have a multifactorial etiology, rare monogenic forms of obesity exist. Several genetic disorders have been described that lead to early onset monogenic obesity. Leptin (LEP), leptin receptor (LEPR), melanocortin 4 receptor (MC4R), proprotein converting protein subtilisin / kexin-type 1 (PCSK1) and proopiomelanocortin (POMC) are the genetic mutations that have been most frequently shown to cause mono...

hrp0089p2-p308 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

A Novel Inactivating Compound Heterozygous Mutation in KISS1R/GPR54: Cases of Three Siblings

Nalbantoglu Ozlem , Arslan Gulcin , Koprulu Ozge , Hazan Fılız , Gursoy Semra , Ozkan Behzat

Introduction: Kisspeptin is a neuropeptide, encoded by the KISS1 gene, which acts upstream of gonadotropin-releasing hormone (GnRH) neurons and also has a critical role for maturation and function of the reproductive axis. Inactivating mutations of its receptor (KISS1R) cause normosmic isolated hypogonadotropic hypogonadism (IHH). In this report, we aim to present three siblings who have IHH due to novel compound heterozygous KISS1R mutation.Cas...

hrp0089p2-p376 | Thyroid P2 | ESPE2018

Long Term Monitoring of Graves Disease in Children and Adolescents: Single Center Experience

Tunc Selma , Koprulu Ozge , Ortac Hatice , Nalbantoğlu Ozlem , Dizdarer Ceyhun , Demir Korcan , Ozkan Behzat

Introduction: Antithyroid Drugs (ATD) are generally preferred at the onset of treatment with no consensus on the duration of ATD (propylthiouracil, methymasole) treatment Graves disease in children.Objective: Examining the effectiveness of ATD treatment on children and adolescents and determining the risk factors of remission and relapse.Method: A total of 45 cases with ages varying between 1–18 years diagnosed with Graves dis...

hrp0082p3-d3-867 | Growth (4) | ESPE2014

The Effect of GH and Pubertal Induction Therapy in Turner Syndrome

Darcan Sukran , Ozen Samim , Koprulu Ozge , Atik Tahir , Ozkinay Ferda , Goksen Damla

Background: The most prominent clinical feature in patients with Turner syndrome (TS) is short stature.Objective and hypotheses: To assess the effect of GH and pubertal induction therapy on height gain in patients with TS.Method: 58 TS patients with a mean age of 18.9±7.2 years were documented retrospectively. Clinical findings, karyotype, impact of baseline age, dosage, baseline bone age, duration of the GH and pubertal induc...

hrp0084p3-867 | Fat | ESPE2015

Insulin Resistance in Adolescents with Screen Addiction and Attention-Deficit/Hyperactivity Disorder

Koprulu Ozge , Darcan Sukran , Ozbaran Burcu , Ata Emsal , Altinok Yasemin , Ozen Samim , Goksen Damla

Background: Screen (TV, tablet, smartphones, internet, video games, PC etc.) addiction is a growing problem in child health. The effect on insulin-glucose metabolism is not well known yet.Objective and hypotheses: To investigate the insulin resistance in screen addicted children.Method: We studied 108 children and adolescents aged 13.72±1.95 years (range 11–17 years). Participants were divided into three groups according ...

hrp0092p3-2 | Adrenals and HPA Axis | ESPE2019

A Rare Cause of Primer Adrenal Insufficiency: NROB1 (DAX1) Mutation

Koprulu Ozge , Acar Sezer , Nalbantoglu Ozlem , Kirbiyik Ozgur , Arslan Gulcin , Ozkaya Beyhan , Ozdemir Taha Resid , Ozkan Behzat

Introduction: Congenital adrenal hypoplasia, a rare cause of childhood primer adrenal insufficiency, is caused by defects in transcription factors involved in the development of adrenal gland. One of them is the NROB1 (DAX1) gene, localized in Xp21.2. DAX1 mutations have been identified that cause X-linked adrenal hypoplasia congenita. Infants affected with X-linked adrenal hypoplasia congenita may present with salt-wasting, micropenis or cry...