hrp0092rfc8.5 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

CHD7 Mutations in Patients with Anosmic or Normosmic Idiopathic Hypogonadotropic Hypogonadism

Damla Kotan Leman , Anik Ahmet , Mengen Eda , Turan Ihsan , Akkus Gamze , Ozsu Elif , Bereket Abdullah , Nuri Ozbek Mehmet , Yuksel Bilgin , Kemal Topaloglu Ali

Background: Mutations in CHD7 cause a rare multi-organ system disorder, CHARGE syndrome (CS). Genital hypoplasia has been described in 60-80% of reported cases because of idiopathic hypogonadotropic hypogonadism (IHH), which is a result of inadequate GnRH secretion in the hypothalamus. Correspondingly, IHH and anosmia are expected in cases with CHD7 mutation. However, due to the phenotypic spectrum of CHD7, mutations have also be...

hrp0082fc9.4 | Beta cells | ESPE2014

Clinical Characteristics and Molecular Genetics Analysis of 20 Patients with Neonatal Diabetes Mellitus from a Single Centre of the South-Eastern Region of Turkey

Demirbilek Huseyin , Arya Ved Bhushan , Nuri Ozbek Mehmet , Houghton Jayne , Baran Riza Taner , Tekkes Selahattin , Mackay Deborah , Flanagan Sarah E , Ellard Sian , Hussain Khalid

Background: Neonatal diabetes mellitus (NDM), either transient (TNDM) or permanent (PNDM), is a rare form of monogenic diabetes, and usually presents in the first 6 months of life.Objective and Hypotheses: To describe the clinical characteristics and molecular genetics of a large Turkish cohort of NDM from a single centre.Method: NDM patients presenting to Diyarbakır Children State Hospital between 2010 and 2013 were prospecti...

hrp0089p1-p058 | Diabetes & Insulin P1 | ESPE2018

Comprehensive Genetic Testing Shows One in Five Children with Diabetes and Non-Autoimmune Extra-Pancreatic Features Have Monogenic Aetiology

Patel Kashyap A , Colclough Kevin , Nuri Ozbek Mehmet , Yildiz Melek , Guran Tulay , Kocyigit Cemil , Acar Sezer , Siklar Zeynep , Atar Muge , Johnson Matt B , Flanagan Sarah E , Ellard Sian , Mine Cizmecioglu Filiz , Berberoglu Merih , Demir Korcan , Catli Gonul , Bas Serpil , Akcay Teoman , Demirbilek Huseyin , Weedon Michael N , Hattersley Andrew T

Background/Aim: Diabetes with extra-pancreatic features in children can have a monogenic aetiology. Single gene testing is undertaken when children present with the characteristic clinical features suggestive of the underlying aetiology. We aim to assess the utility of comprehensive genetic testing for all monogenic diabetes genes in children with diabetes and any non-autoimmune extra-pancreatic features from a population with a high rate of consanguinity.<p class="abstext...

hrp0092p1-91 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Panhypopituitarism Due to a Novel Heterozygous IVS11-2AC(c.1957-2AC) Mutation in GLI2 Gene

demiral meliha , unal edip , kardas burcu , demirbilek hüseyin , ozbek mehmet nuri

Objective: Glioblastoma 2 (encoded by GLI 2 gene), is an activating zinc-finger transcription factor, involved in the Sonic Hedgehog pathway and embryogenesis of diencephalon and distal extremities Heterozygous mutations of GLI2 gene cause a wide range of clinical phenotype known as holoprosencephaly and holoprosencephaly-like syndrome, pituitary insufficiency, mid-facial hypoplasia, and polydactyly. We, herein, report a novel heterozygous IV...

hrp0086p2-p300 | Diabetes P2 | ESPE2016

Evaluation of the Epidemiological, Presenting and Follow-up Characteristics and their Impacts on the Glycemic Control in a Large Cohort of Pediatric Type 1 Diabetes Mellitus Patients from Southeastern Anatolian Region of Turkey

Ozbek Mehmet Nuri , Demirbilek Huseyin , Baysal Birsen , Baran Riza Taner , Haliloglu Belma , Ocal Murat

Background: Type 1 diabetes mellitus (T1DM) is one of the most common chronic disease in childhood. Evaluation of the factors that have impact on the glycemic control and developement of complications would help to develop preventive strategies for management of this group of patients.Objective and hypotheses: To evaluate epidemiological, presenting and follow up characteristics and their relationship with glycemic control in pediatric T1DM patients from...

hrp0082p2-d1-448 | Growth | ESPE2014

Isolated GH Deficiency (IGHD) may be due to Several Different Causes: mutations in the GHRH Receptor Gene Are a Relatively Rare Cause of IGHD

Demirbilek Huseyin , Tahir Sophia , Baran Riza Taner , Sherif Maha , Ozbek Mehmet Nuri , Hussain Khalid

Background: Isolated GH deficiency (IGHD) may be due to several different causes. Mutations in the GHRH receptor (GHRHR) gene are a relatively rare cause of IGHD.Objective and hypotheses: To understand the molecular cause of severe short stature in a large highly consanguineous family with IGHD.Method: Affected patients were evaluated for GH secretion and other anterior pituitary function. Anterior pituitary size was measu...

hrp0084p2-220 | Bone | ESPE2015

Genotype and Phenotype Characteristics in 22 Patients with Vitamin D Dependent Rickets Type I

Tahir Sophia , Demirbilek Huseyin , Ozbek Mehmet Nuri , Baran Riza Taner , Tanriverdi Sibel , Hussain Khalid

Background: Vitamin D dependent rickets type I (VDDR1) is an autosomal recessive disorder caused by mutations in the 25-Hydroxyvitamin-D3 1-α-hydroxylase gene(CYP27B1).Objective and hypotheses: To evaluate clinical characteristics and molecular genetic analysis of the pediatric patients with VDDR1 who were being followed at Diyarbakir Children’s State Hospital, Turkey.Method: VDDR1 diagnosis was consid...

hrp0092p1-254 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

A Novel Approach for the Evaluation of Hypothalamic-Pituitary Region in Patients with Growth Hormone Deficiency: Pons Ratio

Demiral Meliha , Karaca Mehmet Salih , Unal Edip , Baysal Birsen , Baran Riza Taner , Demirbilek Huseyin , Ozbek Mehmet Nuri

Objective: In patients with growth hormone deficiency (GHD), even in those with no major organic lesion, anterior pituitary height (APH) is reported decreased. Limitations in the evaluation of APH and changes according to pubertal status make its validity questionable. Recently, in a small scale study, pons ratio (PR) has been suggested as a more sensitive marker for evaluation of pituitary gland in GHD patients. The study aims to evaluate the validity of PR a...

hrp0089p3-p021 | Adrenals and HPA Axis P3 | ESPE2018

Presenting Features, Clinical Characteristics and Follow up of Familial Isolated Glucocorticoid Deficiency (FGD) due to Mutations in MC2R and MRAP Genes

Ozbek Mehmet Nuri , Karaşin Nezehat Doğan , Demirbilek Huseyin , Demiral Meliha , Baran Rıza Taner , Guran Tulay

Objectives: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized with isolated glucocorticoid deficiency. Melanocortin receptor 2 (MC2R) mediates the functions of adrenocorticotropic hormone (ACTH) in the adrenal cortex. MC2R accessory protein (MRAP), a transmembrane protein, involves in the trafficking of MC2R to the cell surface. Mutations in MC2R and MRAP genes cause FGD type 1 and 2. Herein, we ev...

hrp0084p3-1008 | Growth | ESPE2015

Presenting Characteristics, Auxological, and Aetiologic Evaluation of 364 Patients with GH Deficiency

Ozbek Mehmet Nuri , Baysal Birsen , Tanriverdi Sibel , Deniz Ahmet , Oncel Kahraman , Ocal Murat , Baran Riza Taner , Demirbilek Huseyin

Background: GH deficiency (GHD), can either be isolated (IGHD) or part of multiple pituitary hormone deficiency (MPHD), is a pituitary hormone disorder that manifests with short stature.Objective and hypotheses: To evaluate the presenting characteristics, auxological and etiologic factors of GHD in a large cohort from a single tertiary paediatric endocrine centre.Methods: Hospital files of patients followed with GHD deficiency at D...