Hypocalcemia due to 22q11.2 deletion syndrome diagnosed in adulthood
2018 ◽
Vol 2018
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Keyword(s):
Summary Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic syndrome that may present with hypocalcemia due to primary hypoparathyroidism (PH) at any age. We report a new diagnosis of 22q11.2DS in a 57-year-old man who presented with symptomatic hypocalcemia. It is important to consider genetic causes of hypocalcemia due to PH regardless of age. Learning points: It is important to discard genetic cause of primary hypoparathyroidism in a patient without autoimmune disease or prior neck surgery. A new diagnosis of a hereditary disease has familial implications and needs genetic counselling. It is also important to discard other syndrome’s comorbidities.
2019 ◽
Vol 25
(3)
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pp. 192-196
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2015 ◽
Vol 276
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pp. 190-198
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2017 ◽
Vol 65
(2)
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pp. 116-121
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