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Pseudohyroidism Research Paper

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Pseudopseudohypoparathyroidism (PPHP) is a genetic disorder that affects the thyroid and shares the same common symptoms as Pseudohypoparathyroidism. It is a genetic mutation that ends in the loss of function of the Gs-alpha isoform of the GNAS gene on the paternal allele. Pseudohypoparathyroidism is a sex linked disorder that resembles Hypoparathyroidism but it does not respond to treatment along with the parathyroid hormone. Although there are treatments that can maintain it, there is nothing that can completely cure it. It is not life threatening, but it can mildly affect people and their bodies, especially if they have severe ectopic ossification. The signs and symptoms include intellectual disability, cataract, cognitive impairment, depressed …show more content…
If there is no resistance with the parathyroid gland, it will diagnosed under another type of Pseudohypoparathyroidism. This most commonly affects children and delays the puberty stage for both girls and boys and will cause subnormal fertility problems as well. Pseudopseudohypoparathyroidism usually runs in the family, so if multiple family members are diagnosed with it, there is a high possibility the offspring will have it as well, this is where genetic comes in. A case of a thirty seven year old man was recorded, who has had severe health problems since his early thirties, such as a surgical replacement of the bicuspid aortic valve (important valve for transporting blood, located on the heart), a fever for the duration of a month and mandibular pain for approximately a month and 2 weeks.The hospital at which this man attended, examined him and noted that he had short stature (155cm/approximately 5’0, 5’1) and the 4th and 5th fingers were shortened. They took x-rays of his hands and the radiographs showed equal abnormalities of both of the hands, which also displayed, shortening of the first and third distal

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