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...

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...

hrp0082p3-d2-966 | Sex Development (1) | ESPE2014

A Rare Case of Swyer Syndrome with Spontaneous Breast Development and Menstruation

Dundar Bumin Nuri , Sule Can P , Alparslan Caner , Akbay Sinem , Catli Gonul , Kelekci Sefa

Background: Swyer syndrome (46,XY pure gonadal dysgenesis) is a rare disorder, which is characterized by female phenotype, female internal genitalia and fibrotic and primitive gonads. Classically, breast development and menstruation are absent due to hypergonadotropic hypogonadism.Objective and hypotheses: To our knowledge, three cases of Swyer syndrome with spontaneous breast development have been reported so far. In these reports, breast development wa...

hrp0084p2-467 | Growth | ESPE2015

Clinical and Biochemical Characteristics of a Female Patient with a Novel Homozygous STAT5B Mutation but Lack of Pulmonary Disease

Catli Gonul , Hwa Vivian , Loseqoot Monique , Ozyilmaz Berk , Edeer Neslihan , Dundar Bumin Nuri , Wit Jan Marteen

Background: STAT5B deficiency is characterized by severe postnatal growth failure, low IGF1, elevated levels of GH and prolactin, and immunodeficiency. To date, only ten patients with seven different mutations have been described.Objective and hypotheses: Describe clinical characteristics of a novel homozygous frameshift mutation in STAT5B.Results: A 17-year-old female was referred for proportionate short stature and prima...

hrp0084p3-799 | DSD | ESPE2015

A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty

Kocyigit Cemil , Catli Gonul , Saritas Serdar , Onay Huseyin , Dundar Bumin Nuri

Background: Partial androgen insensitivity syndrome (PAIS) typically presents with micropenis, penoscrotal hypospadias, bifid scrotum with descending or undescending testes and gynecomastia. It is x-linked recessive disease resulting from mutations in androgen receptor (AR) gene.Objective and hypothesis: To present clinical characteristics of a novel mutation in the AR gene in an adolescent boy with PAIS who presented with gynecomastia ...

hrp0089p3-p034 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

A Rare Cause of Hypercalcemia in Childhood: Hypercalcemia Associated with Parathormon-Related Peptid

Catlı Gonul , Filibeli Berna Eroğlu , Demir Belde Kasap , Mutlubaş Fatma , Dundar Bumin Nuri

Introduction: Parathormone-related peptide (PTHrP) regulates tissue calcium concentration by acting in paracrine or autocrine ways. It is mostly responsible for paraneoplastic hypercalcemia seen in adults. Paraneoplastic hypercalcemia in children is rarely reported in cancers such as ALL, medulloblastoma and hepatoblastoma (0.4–0.7%). In experimental studies, PTHrP is shown to be synthesized apart from neoplastic tissue (glomerulus and tubule cells).<p class="abstext"...