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Endocrine Abstracts (2017) 49 EP410 | DOI: 10.1530/endoabs.49.EP410

ECE2017 Eposter Presentations: Diabetes, Obesity and Metabolism Diabetes (to include epidemiology, pathophysiology) (95 abstracts)

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

Huseyin Anil Korkmaz

Division of of Pediatric Endocrinology, Balikesir Atatürk State Hospital, Balikesir, Turkey.

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 his aunt and uncle had brilliant blue iris, fasting and postprandial hyperglycemia. On physical examination; Height: 131.5 cm (10–25p), Height SDS: −0.76, Weight: 28.9 kg (25–50p), Weight SDS: −0.29, Body mass index: 16.72, Body mass index SDS:0.16. On physical examination, the patient with a brilliant blue iris had dystopia canthorum, skin hypopigmentation, synophrys, broad nasal root, hypoplasia alae nasi and mild sensorineural hearing loss. When our patient was evaluated for Waardenburg syndrome clinical criteria, Waardenburg syndrome was diagnosed with Waardenburg Consortium. Blood glucose was 148 mg/dl (75–100), insulin was 19.1 IU/ml (2–18) and serum C-peptide level was 3.72 ng/ml (1.1–4.4). HbA1c value was 6.2%, anti insulin antibody was 0.01 U/ml (0–0.5U), anti-GAD was <1 U/ml (< 1 U/ml) and islet cell antibody was negative. When our patient was evaluated for maturity onset diabetes of the young, MODY type 2 was diagnosed with heterozygote c.313delC (p.H105TfsX11) mutation in glucokinase gene. Repaglinide was started for controlling blood glucose levels and blood glucose regulation was achieved.

Conclusion: We reported the case of a patient with Waardenburg syndrome accompanied by glucokinase gene mutation, To the best of our knowledge, we believed the first reported Waardenburg syndrome patient with these concomitant disorder.

Keywords: Waardenburg syndrome type 1; glucokinase gene; MODY; hyperglycemia.

Volume 49

19th European Congress of Endocrinology

Lisbon, Portugal
20 May 2017 - 23 May 2017

European Society of Endocrinology 

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