A patient has hyperphosphatemia with sho metacarpals and associated cataract. The diagnosis is:
Answer is A (Pseudohypoparathyroidism): The presence of hyperphosphatemia (Serum phosphate) along with characteristic brachydactyly suggests the diagnosis of pseudohypoparathyroidism. Pseudohypoparathyroidism This is a hereditary disorder associated with symptoms and signs of hypoparathyroidism despite an elevated PTH level (pseudohypoparathyroidism) This is produced as a result of deficient end organ response to PTH.
Pseudohypoparathyroidism
Hypophophatasia
Hyperparathyroidism
Osteomalacia