hrp0082p3-d1-625 | Adrenals & HP Axis | ESPE2014

A Pediatric Case of Cushing’s Disease Presenting with Diabetic Ketoacidosis

Catli Gonul , Tanrisever Ozgur , Sule Can P , Nuri Dundar Bumin

Background: Cushing syndrome is very rare in childhood and adolescence and often occurs with iatrogenic causes. The major cause of endogenous Cushing syndrome is Cushing’s disease, which results due to excessive ACTH secretion from pituitary cells (corticotroph adenoma).Objective and hypothesis: Cushing syndrome cases, which presented with diabetic ketoacidosis (DKA) in adulthood have been rarely reported. However, to our knowledge, there is no repo...

hrp0084p3-718 | Diabetes | ESPE2015

Effect of Reward-based Motivation on Metabolic Control in Children and Adolescents with Type 1 Diabetes Mellitus

Kocyigit Cemil , Catli Gonul , Can Sule Penbe , Dundar Bumin Nuri

Background: Metabolic control is important in prevention and delay of microvascular and macrovascular complications of type 1 diabetes mellitus (DM). Psychological disorders and, a lack of motivation may negatively affect metabolic control. Therefore, motivational and psychological support can be needed as a part of medical treatment to improve metabolic control in patients with type 1 DM.Objective and hypotheses: To investigate the impact of reward-base...

hrp0084p3-1118 | Pituitary | ESPE2015

Pituitary Stalk Interruption Syndrome Presenting with Normogonadotropic Amenorrhea and Hypoprolactinemia

Catli Gonul , Kocyigit Cemil , Can Sule Penbe , Dundar Bumin Nuri

Introduction: Pituitary stalk interruption syndrome (PSIS) is a rare congenital abnormality of the pituitary gland. Perinatal injuries, defective organogenesis or rare mutations of HESX1, LHX4, OTX3 and SOX3 are proposed to be the cause of PSIS in familial cases. It is characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary and hypoplasia or aplasia of the anterior pituitary. Typical features are tertiary hypothyroid...

hrp0097rfc14.1 | Late Breaking | ESPE2023

Clinical characteristics of patients presented with primary adrenal insufficiency due to a p.R451W mutation in the CYP11A1 gene

Çayır Atilla , Demirbilek Huseyin , Nuri Ozbek Mehmet , Kurt lknur , Karaoglan Murat , Albayrak Serpil , Nuri Dundar Bumin , Guran Tulay

Background and objective: The first and rate-limiting step of steroidogenesis is the conversion of cholesterol to pregnanolone which is catalyzed by the P450scc side chain cleavage enzyme (encoded by CYP11A1 gene-SCC). Homozygous recessive mutations of the CYP11A1 gene cause a global steroid hormone deficiency thereby disorders of sexual development in 46, XY individuals with a variable phenotype depending on the mutation characteristics. About 60 cases of SCC...

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...

hrp0089p3-p033 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

A 13 Year-Old Boy Diagnosed as Osteogenesis Omperfecta with Normal Bone Mineral Density

Tınastepe Tuba , Filibeli Berna Eroğlu , Catlı Gonul , Dundar Bumin Nuri

Osteogenesis imperfecta is a hereditary connective tissue disease developing based on the structure or synthesis impairment of type 1 collagen and proceeding with diffuse osteoporosis, fragility, fractures and deformities in bones. Bone mineral density can be at normal or even high levels particularly especially in type I and XIII. Here, a 13 year-old boy diagnosed as osteogenesis imperfecta with normal bone mineral density was presented and treatment results were shared. A 13...

hrp0089p3-p035 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Our Treatment Experience with Nocturnal Continuous Enteral Calcium Infusion in a Case with Vitamin D Resistance Rickets Type II

Filibeli Berna Eroğlu , Kırbıyık Ozgur , Dundar Bumin Nuri

Introduction: Vitamin D resistant rickets type II (VDDR-II) is a disease with a difficult treatment developed as a result of mutations in VDR gene. Despite high dose active vitamin D and oral calcium treatments, sufficient recovery cannot be achieved mostly. Successful results with intravenous calcium infusion that is an alternative treatment have been reported; however, serious restrictions and complications such as hospitalization, catheter infection, thrombosis, skin necros...

hrp0089p2-p143 | Fat, Metabolism and Obesity P2 | ESPE2018

The Relationship between Anthropometric Measurements and Breast Milk Ghrelin and Nesfatin-1 Levels in Infants with Small for Gestational Age

Filibeli Berna Eroğlu , Karabulut Melike , Aksun Saliha , Catlı Gonul , Dundar Bumin Nuri

Introduction: It has been suggested that adipokines found in breast milk and may be effective in early growth of infants.Purpose: It was aimed to evaluate the relationship between total ghrelin (TGh) and nesfatin-1 levels in breast milk with anthropometric measurements in the first 4 months of life in infants with small for gestation age (SGA) showing fast growth pattern.Method: A total of 20 SGA and 20 control infants with appropr...

hrp0089p2-p174 | Fat, Metabolism and Obesity P2 | ESPE2018

CAN Triponderal Mass Index be a New Indicator in the Predicting Cardiometabolic Risk in Obese Adolescents?

Cingoz Gulten , Filibeli Berna Eroğlu , Dundar Bumin Nuri , Catlı Gonul

Introduction: BMI is claimed to be unreliable in the determination of body fat rate and cardiometabolic risk. Troublesome and reproducibility low measurements like waist circumference, waist circumference/height rate are used in the evaluation of cardiometabolic risk. Triponderal mass index (TMI; weight/height3), however, is suggested to be superior BMI in determining body fat rate and obesity.Purpose: In this study TMI’s relationship wit...

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...