A 32-year-old man presented with persistent thirst. He had a past history of polydactyly, which had been corrected surgically in infancy. His family had remarked about his recent weight gain. His only concern was of blurring of vision and difficulty reading. His father and paternal grandfather had each developed type 2 diabetes mellitus when aged 41 and 56 years, respectively.
His body mass index was 34 kg/m2 (18–25). Urinalysis showed glucose 2+, ketones 1+.
Investigations:
serum sodium 142 mmol/L (137–144)
serum potassium 3.8 mmol/L (3.5–4.9)
serum chloride 105 mmol/L (95–107)
serum urea 5.0 mmol/L (2.5–7.0)
serum creatinine 90 µmol/L (60–110)
haemoglobin A1c 91 mmol/mol (20–42)
random plasma glucose 11.3 mmol/L
ultrasound scan of kidneys normal
What is the most likely underlying diagnosis?
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Bardet–Biedl syndrome
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monogenic diabetes caused by a mutation in the glucokinase gene
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monogenic diabetes caused by a mutation in the HNF-1? gene
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Prader–Willi syndrome
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type 2 diabetes mellitus