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Pseudo Hypoparathyroidism Four Cases Of Clinical Analysis And Review Of The Literature,

Posted on:2009-11-06Degree:MasterType:Thesis
Country:ChinaCandidate:J Q YaoFull Text:PDF
GTID:2204360245452834Subject:Clinical Medicine
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Objective To improve the recognition and diagnosis of pseudohypoparathyroidism ( PHP).Methods Clinic manifestations, laboratory examinations and imageologic manifestations in 4 cases with clinically-and laboratorially-proved PHP were retrospectively analyzed from 2003.1-2008.3 in the second affiliated hospital of Zhejiang university school of medicine. The relevant medical literature was reviewed.Results Six subjects with PHP were investigated and studied. There were 2 males and 2 females. The age of 4 patients was from 14 to 35 years. The average age was 28.0 years. The course of disease was from 2 months to 10 years, the average value was 3.4 years .In 4 cases, the 3 cases had tetany seizures, like epilepsia major, combined with involuntary movement in 1 case. The other one had periodical unconsciousness. limbs anesthesia, muscular soreness were seen in 2 cases. Edema in face and both lower extremities was observed in 1 case. Hypocalcemia, hyperphosphatemia, increased parathyroid hormone (PTH) level were found in all cases. 1 case had congenital dysplasia, that is Albright' s hereditary osteodystrophy (AHO): short stature, round face, obesity, brachydactyly. Shortening of the 1st, 4th and 5th fingers( toes) was the characteristic sign. Radiologic features: shortening of the 1st, 4th and 5th metacarpals in both hands were found in 1 case.2 patients had symmetrical calcification of basal ganglia. lpatient also had diffuse symmetrical calcification in the brain. Osteoporosis in lumbar vertebrae and femoral bone was observed in 1case. Abnormal findings in electroencephalogram were found in 3 cases.Conclusion Based on clinical history and laboratory findings, such as hypocalcemia, hyperphosphatemia, normal or increased parathyroidism (PTH) level, the radiological signs and response to vitamin D and calcium therapy, etc., the disease can be correctly diagnosed.
Keywords/Search Tags:pseudohypoparathyroidism, Albright' s hereditary osteodystrophy, GNAS1 gene
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