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Question 1: A 17-year-old boy, with short stature, obesity and neurobehavioural problems, was referred
because of cold intolerance.
On examination, he and his mother had similar body habitus and short fingers (brachydactyly).
Investigations (before attending clinic):
serum sodium143 mmol/L (137-144) serum potassium4.4 mmol/L (3.5-4.9) serum creatinine93
umol/L (60-110) serum corrected calcium2.02 mmol/L (2.20-2.60) serum phosphate1.7 mmol/L (0.8-
1.4)
serum thyroid-stimulating hormone16.0 mU/L (0.4-5.0) serum free T410.0 pmol/L (10.0-22.0) plasma
parathyroid hormone27.0 pmol/L (0.9-5.4)
His mother's blood tests were all normal.
What is the most likely diagnosis in this boy?
A. DiGeorge syndrome
B. McCune-Albright syndrome
C. polyglandular autoimmune syndrome type 1
D. pseudohypoparathyroidism
E. pseudopseudohypoparathyroidism
Correct Answer: D
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