pseudopseudohypoparathyroidism

     

Pseuopseudohypoparathyroidism (pseudoPHP) is an inherited disorder that is caused by a mutation in the Gαs gene imprinted on the paternal chromosome. As such, a haploinsufficiency results similar to pseudohypoparathyroidism 1A, which is caused by a similar defect on the corresponding maternal chromosome. However, unlike pseudohypoparathyroidism 1A, which presents with all the symptoms of hypoparathyroidism except the low parathyroid hormone levels, pseudopseudohypoparathyroidism presents only with the skeletal defects and none of the defects in calcium and phosphate homeostasis. Patients generally have normal calcium and phosphate levels and normal parathyroid hormone levels. As such, it is sometimes considered a variant of Albright hereditary osteodystrophy.

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