Full 2L QBank
Medicine Disorder of Metabolism & Connective Tissue 7b5099d7

Jansen disease is?

A
Defect of PTH receptor
B
Defect of GHRH receptor
C
Defect of ADH receptor
D
Defect of GH receptor
High-Yield Explanation
Ans. is 'a' i.e.. Defect of PTH receptor o Jansen syndrome occurs due to activating mutations in the PTH/PTHrP receptor (PTHIR).o Rare autosomal dominant syndrome.o The disorder leads to short-limbed dwarfism due to abnormal regulation of chondrocyte maturation in the growth plates of the bone that are formed through an endochondral process.o In adult life, there are numerous abnormalities in bone, includingy Multiple cystic resorptive areas resembling those seen in severe hyperparathyroidismy Hypercalcemia and hypophosphatemiay Undetectable or low PTH levels are typically seen.

Related Medicine MCQs

Practice 2,00,000+ NEET PG Questions Free

Timed mock tests, mistake queue analytics, audio lectures & zero attempt limits on i❤️Exams.

Start Free Mock Test Now