hrp0089p3-p070 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Hypercalcemia due to Six Newly Identified Inactivating Mutations in the CaSR Gene

Kor Yılmaz

Introduction: Heterozygous inactivating mutations that occur in the calcium sensing receptor (CaSR) gene often lead to benign mild to moderate and parathormone (PTH) dependent familial hypocalciuric hypercalcemia (FHH). Neonatal severe hyperparathyroidism is a clinical condition that develops due to homozygous inactivating mutations in the CASR gene and results in severe, life-threatening hypercalcemia. In this study, we aimed to discuss the differences in clinical, genetic, l...

hrp0089p2-p077 | Diabetes & Insulin P2 | ESPE2018

Clinical and Genetic Characterizations of Maturity Onset Diabetes of the Young: Single Center Results

Guven Ayla , Yıldırımoglu Canan

Background: Maturity onset diabetes of the young (MODY) is a group of monogenic disorders classically presenting in adolescence or young adults before the age of 25 years. MODY is a rare cause of diabetes.Methods: In this study, a panel of 23 MODY genes was screened. The Human Gene Mutation Database (HGMD), Clinvar, dbSNP and Exac database used for known or new variants causes MODY. Classification of variants performed according to ACMG 2015 Guidelines. ...

hrp0082p3-d2-851 | Growth (3) | ESPE2014

Growth pattern of the nigerian child compared to international references

Elusiyan Jerome , Ibekwe MaryAnn Ugochi , Alkali Y , Agwu J. Chizo

Background: There are currently no specific growth charts for use in Nigerian children over the age of 5 years. Health workers rely on charts developed by the Center for Disease Control for children in USA (2000CDC US) or the UK 1990 growth charts for British children. It is unknown whether Nigerian children grow to the same height or at the same tempo as American or British children.Objective and hypotheses: To compare the growth of the Nigerian child t...

hrp0094p2-317 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Noonan syndrome patients with short stature at a single pediatric endocrinology centre

Deyanova Y. , Iotova V. , Tsochev K. , Stoyanova M. , Stoicheva R. , Mladenov V. , Bazdarska Y. , Galcheva S. , Zenker M. ,

Introduction: Noonan syndrome (NS) is caused by mutations in RAS/MAPK signaling pathway genes. About 70% of the NS patients have short stature, and human recombinant growth hormone (rhGH) is an established yet not fully standardized treatment.Objective: To assess the first 2 years rhGH treatment effectiveness in NS patients at a single centre.Materials and methods: A total of 20 (16 male) NS patien...

hrp0089p2-p152 | Fat, Metabolism and Obesity P2 | ESPE2018

Does Late Sleeping Time Results Increased Bedtime Snack? What is the Risk of this in Childhood Obesity?

Yılmaz Mehmet Mustafa , Gunay Fatih , İlarslan Nisa Eda Cullas , Yılmaz Ozlem , Ateş Funda Seher Ozalp , Kose Serdal Kenan , Atalay Semra , Bilir Pelin

Objective: Several studies have shown that sleep plays an important role as a modulator of metabolic homeostasis. Indeed, hundreds of studies have been published to examine the relationship between insufficient sleep, late bedtime and obesity. We have studied bedtime snack as another parameter. We suggested that it may be a risk factor for obesity. When we looked at the literature, we could not find any study about bedtime snack in childhood, but there are a few studies in adu...

hrp0089p3-p154 | Fat, Metabolism and Obesity P3 | ESPE2018

Relation of Screen-Time (Phone-Computer-TV-Online Games) and Physical Activity with Childhood Obesity

Yılmaz Mehmet Mustafa , İlarslan Nisa Eda Cullas , Gunay Fatih , Yılmaz Ozlem , Ates Funda Seher Ozalp , Kose Serdal Kenan , Atalay Semra , Bilir Pelin

Objective: Sedentary lifestyle obviously increases the risk of obesity. Reduced physical activity and increased screen-time seem to act as major determinants of the rapid increase of childhood obesity. Prevention of obesity is easier and more practical in comparison with treatment of obesity and its complications. Treatment of childhood obesity not only carries positive biopsychosocial consequences for the child but also serves as an important public health issue by preventing...

hrp0092p1-425 | Thyroid (2) | ESPE2019

Maternally Inherited Resistance to Thyroid Hormones with Discordant Postnatal Phenotypes in Two Infant Brothers

Cavin Rosalie , Chevalier Claudia , Van Vliet Guy , Deladoëy Johnny

Resistance to thyroid hormone due to mutations inactivating thyroid hormone receptor-Beta occurs in one in 40,000 individuals and can arise de novo or be inherited, generally in a dominant fashion. Clinical manifestations are widely variable and include failure to thrive in infancy. The biochemical diagnosis is usually straightforward: high serum fT4 and non-suppressed TSH.We report two brothers who both inherited the known c.728G>A, p.R24...

hrp0092p2-42 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Stuve-Wiedemann Syndrome: A Case Report without Osteorosis

Orbak Zerrin , Yüce Kahraman Çigdem , Orbak Recep , Özden Ayse , Tatar Abdulgani

Stüve-Wiedemann syndrome (SWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, neuromuscular abnormalities, dysautonomic symptoms, and respiratory and feeding distress usually resulting in early death.We report a girl, aged 6 years, with SWS. We measured bone mineral density in the lumbar spine, using dual-energy x-ray absorptiometry (DXA) with a densitometer (Hologic). The result is express...

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...

hrp0089p3-p039 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Carbonic Anhydrase Deficiency: Three Siblings

Buluş Derya , Tayfur Aslı Celebi , Yılmaz Deniz

Introduction: The carbonic anhydrase II (CA II) deficiency syndrome is a rare autosomal recessive disorder associated with osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification (CADS; autosomal recessive osteopetrosis type 3). Other features include visual and auditory impairment, short stature, a large cranial vault, history of multiple skeletal fractures, developmental delay and cognitive defects, anemia, splenomegaly and secondary erythropoiesis. We report...