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...

hrp0084p3-1229 | Thyroid | ESPE2015

Euthyroid Sick Syndrome in Children Presenting with Diabetic Ketoacidosis

Baran Riza Taner , Demirbilek Huseyin , Dundar Munevver , Aydin Mulkiye , Demir Remezan , Karatas Mustafa , Tas Funda , Oncel Kahraman , Ozbek Mehmet Nuri

Background: Euthyroid sick syndrome (ESS), also known as non-thyroidal illness or low T3 syndrome, is defined as low T3, low/normal T4 and inability of rise in TSH due to extrathyroidal diseases. Any condition resulting stress such as infectious diseases, sepsis, metabolic disorders and severe malnutrition can associate to ESS. Patients presented with type 1 diabetes mellitus (T1DM) are usually being screened for other autoimmune diseases inclu...

hrp0089p2-p182 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Clinical Characterstics, Genotype-Phenotype Correlations and Follow Up of Patients with Congenital Hyperinsulinaemic Hypoglycaemia; Single Center Experience from a Southeastern City of Turkey

Ozbek Mehmet Nuri , Demirbilek Huseyin , Haliloglu Belma , Demiral Meliha , Baran Riza Taner , Ellard Sian , Houghton Jayne , Flanagan Sarah E , Hussain Khalid

Objective: Congenital Hyperinsulinism (CHI) is a clinically, genetically and histologically heterogenous diesease. In recent years substantial developements have been observed in the genetics, imaging techniques and treatment options. We herein present the clinical characteristics, genetics and follow-up of 31 CHI patients from a single paediatric endocrine center with a particular emphasis on the new treatment options.Patients and method: Clinical chara...

hrp0082p2-d1-324 | Diabetes | ESPE2014

Two Novel Homozygous Mutations in WFS1 Gene in Two Turkish Families with Mild Phenotypic Expression of Wolfram Syndrome

Sherif Maha , Demirbilek Huseyin , Cayir Atilla , Ozbek Mehmet Nuri , Baran Riza Taner , Cebeci Ayse Nurcan , Tahir Sophia , Rahman Sofia , Dattani Mehul , Hussain Khalid

Background: Wolfram syndrome (WS or DIDMOAD) is a rare (prevalence of 1/770,000) autosomal recessive multi-systemic neurodegenerative disease, characterized by non-autoimmune diabetes mellitus (DM) and optic atrophy. Additional features include diabetes insipidus (DI), sensorineural deafness, urinary tract abnormalities, ataxia, psychiatric illness, and other endocrine disturbances leading to death in mid-adulthood. This syndrome is caused by recessive mutations in the wolfram...