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...

hrp0095rfc2.4 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Dysosteosclerosis is also caused by null mutations of TNFRSF11A

Kırkgöz Tarık , Ozkan Behzat , Acar Sezer , Hazan Filiz , Ikegawa Shiro , Guo Long

Dysosteosclerosis (DOS) is a rare form of dense bone disease and, short stature, recurrent fractures, optic atrophy, cranial nerve palsy, developmental delay, flattened fingernails, skin related complications, and failure of tooth eruption are the characteristic features of the disease (MIM %224300). Irregular osteosclerosis, flattened diffusely dense vertebral bodies, sclerotic skull, radiolucent sub-metaphyseal portions of the long tubular bones with sclerotic diaphysis are ...

hrp0086p2-p493 | Fat Metabolism and Obesity P2 | ESPE2016

Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents

Tunc Selma , Demir Korcan , Tukun F Ajlan , Topal Cihan , Hazan Filiz , Saglam Burcu , Nalbantoglu Ozlem , Yildiz Melek , Ozkan Behzat

Background: Melanocortin-4 receptor (MC4R) mutations are the most common known cause of monogenic obesity but there is no data for Turkish children.Objective: To determine the prevalence of MC4R mutations in a group of Turkish morbid obese children and adolescents.Method: MC4R gene was sequenced in 47 consecutive morbidly obese children and adolescents (28 girls and 19 boys, aged 1–18 years) who presented dur...

hrp0084p1-5 | Adrenal | ESPE2015

Genetic Heterogeneity in Triple A Syndrome: Discrimination of the Classic Syndrome from Two Triple A-Like Syndromes

Huebner Angela , Reschke Felix , Kurth Ingo , Kutzner Susann , Utine Eda , Hazan Filiz , Landgraf Dana , Hubner Christian A , Koehler Katrin

Background: Triple A syndrome is a rare autosomal recessive disorder characterized by adrenal failure, alacrima, achalasia, and a variety of neurological features. In 70% of the families it is caused by mutations in the AAAS gene. Linkage analyses indicated genetic heterogeneity and exome sequencing revealed two further genes causing triple A-like syndromes.Objective and hypotheses: To summarise the genotypes and phenotypes of classic triple A s...

hrp0084p2-216 | Bone | ESPE2015

A Case with Acrodysostosis and Hormone Resistance

Tunc Selma , Demir Korcan , Hazan Filiz , Kirbiyik Ozgur , Soyaltin Eren , Nalbantoglu Ozlem , Yildiz Melek , Korkmaz Huseyin Anil , Ozkan Behzat

Aim: Acrodysostosis is a rare genetic syndrome characterized by small hands and feet with short, stubby fingers and toes, cone shaped epiphyses, broad nasal root, various abnormalities of mandible, skull, and vertebra, short stature, and mental retardation. Because of the hormone resistance that would accompany, acrodysostosis can be confused with pseudohypoparathyroidism. Mutations of PRKAR1A and PDE4D are reported to be responsible for the disease in less t...

hrp0086p1-p737 | Pituitary and Neuroendocrinology P1 | ESPE2016

Screening of PROP-1, LHX2 and POU1F1 Mutations in Patients with Ectopic Posterior Pituitary Gland

Korkmaz Huseyin Anıl , Karaarslan Utku , Eraslan Cenk , Atila Dincer , Hazan Filiz , Barısık Vatan , Sevcan Ata Emine , Etlik Ozdal , Yıldız Melek , Ozkan Behzat

Background: Ectopic posterior pituitary gland (EPP) is characterized by an abnormal pituitary stalk and hypoplasia of the anterior hypophysis. The genetic mechanisms involved in the development of EPP remain uncertain.Objective and hypotheses: The aim of this study is to determine whether mutations in the three genes, PROP-1, LHX2, and POU1F1, are associated with the risk for and the characteristics of EPP.Method: In the Endocrinol...