ESPE Abstracts (2018) 89 P-P2-086

ESPE2018 Poster Presentations Diabetes & Insulin P2 (63 abstracts)

Local Experience of Diabetes and Deafness

Reham Ibrhim a & Mohamed Abdullah b

aSudan Childhood diabetes Center, Khartoum, Sudan; bUnversity of Khartoum, Khartoum, Sudan

Aim: There is a well described association between diabetes and deafness in many syndromes Collect baseline data about syndromes of diabetes and deafness in Sudan and the underline etiology.

Methods: All records of patients with diabetes registered from (Jan.2006 to Dece.2015) were reviewed. Those confirmed to have deafness where further reviewed to find the etiology and management.

Result: Ten cases of Wolfram syndrome were identified 9 female and one male median age at onset of diabetes was (4.6 years). Eight cases were diagnosed with sensorineural deafness based on hearing assessment. Neurogenic bladder was the most common associated condition. Genetic analysis to identify the causative gen was done in EXTER molecular genetics laboratory UK).WFS1 was identified in all cases.Five cases of Thiamine –responsive megalobalstic anemia (Rogers syndromes) five female and one male with the median age of diabetes onset 9.7 months and 12 months for deafness.Ophthalmic complication nystagmus and cataract were diagnosed in 2 patients one patient diagnosed with Stroke at the age of 2 years this patient also was diagnosed with SVT. SLC19A2 gene mutation identified in 3 cases. One case of H-Syndrome A 19-year-old male was born of a consanguineous marriage developed deafness at the age of 8 months diabetes at the age of 15 and noticed to be short recurrent bouts of oily stool. Homozygous mutation in SLC29A3 was identified

Conclusions: Syndromes of congenital deafness and diabetes are rare. Identification of this syndromes needs high index of suspicion. Earlier recognition of these syndrome could improve quality of life by allowing earlier intervention.

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