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Medicine Disorders of Parathyroid Gland a36f34e9

Which is true about Familial hypocalciuric hypercalcemia?

A
Inherited as autosomal recessive pattern
B
Cause is defect in PTH receptor
C
Clinical symptoms occur in third decade
D
Treatment is rarely necessary
High-Yield Explanation
Familial hypocalciuric hypercalcemia is an autosomal dominant disorder. Hence choice A is wrong. The mutation in PTH receptor is known as Jansen disease. Hence choice B is wrong. The cause is defective calcium sensing by parathyroid gland leading to excess release of PTH and subsequent hypercalcemia. Urinary reabsorption of calcium is 99% and it presents in the first decade of life. Hence Choice C is wrong. Clinical symptoms are rarely present and hence no treatment is warranted.

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