Pathology - Pseudohypoparathyroidism
Autosomal recessive condition causing a faulty PTH receptor. Deficiency in Gs-a results in reduced connection between the PTH receptor and adenylate cyclase, causing the PTH receptor to be unable to activate the target cell. The regulation of Gs-a is changed so that the target cell does not respond to PTH receptor stimulation. Symptoms and signs Hypocalcemia symptoms include tetany, extended QT interval on ECG, Trousseau sign, and Chvostek sign. Pseudohypoparathyroidism is linked to Albright hereditary osteodystrophy, a group of diseases that involve pseudohypoparathyroidism, small stature, developmental delay, shortened fourth and fifth metacarpal and metatarsal bones, and obesity. Laboratory results: Hypocalcemia, low PTH levels, elevated serum phosphate levels. Therapy involves calcium and vitamin D supplements.
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