Searchable abstracts of presentations at key conferences in endocrinology

ea0049ep410 | Diabetes (to include epidemiology, pathophysiology) | ECE2017

Heterozygote c.313delC (p.H105TfsX11) mutation of Glucokinase gene in patient with Waardenburg syndrome type 1

Korkmaz Huseyin Anil

Background: Waardenburg syndrome is known as an inherited disorder associated with sensorineural deafness and pigmentary abnormalities affecting the skin, hair, and eye. There are rare case reports of Waardenburg syndrome with diabetes mellitus in the literature.Case: A 9-years-old boy from consanguineous family was admitted to pediatric endocrine department because of fasting and postprandial hyperglycemia. In the medical history, it was learned that hi...

ea0049ep413 | Diabetes (to include epidemiology, pathophysiology) | ECE2017

Association of wolfram syndrome with chronic renal failure in a boy

Korkmaz Huseyin Anil

Wolfram syndrome, rare neurodegenerative disorder, is known to be DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). There are rare case reports of Wolfram syndrome with chronic renal failure in the literature.A 19-year-old male patient was admitted to our pediatric emergency department because of headache, chest pain and diurnal and nocturnal enuresis. He had been diagnosed with ...

ea0066oc5.3 | Oral Communications 5 | BSPED2019

Causes of central diabetes insipidus in children: a single-centre experience

Arya Ved Bhushan , Korkmaz Huseyin Anil , Kalitsi Jennifer , Kapoor Ritika R , Buchanan Charles R

Background: Central diabetes insipidus (CDI) presents with various underlying diagnoses in children.Objective: To determine causes of CDI and long-term outcome in children and adolescents from a Tertiary Paediatric Endocrinology unit providing Regional Paediatric Neurosurgery and head trauma services.Methods: The clinic database was searched to identify patients with CDI managed between 1993 and 2019. Relevant clinical information ...

ea0037ep139 | Reproduction, endocrine disruptors and signalling | ECE2015

Increased circulating urocortin-3 levels is associated with polycystic ovary syndrome

Temur Muzaffer , Yilmaz Ozgur , Aksun Saliha , Ozbay Pelin Ozun , Calan Mehmet , Kume Tuncay , Karakulak Murat , Korkmaz Huseyin Anil

Purpose: This study aims to compare serum urocortin-3 levels in women with PCOS and healthy women, and establish what role urocortin-3 levels play in PCOS.Methods: Fifty-two patients with PCOS and 55 healthy women were included in the study, matched for age and BMI. Fasting blood glucose (FBG), insulin, hs-CRP, urocortin-3, and free testosterone levels of the all participants were measured. HOMA-IR was used to calculate the insulin resistance.<p clas...