Clinical Characteristics Study of Pseudohypoparathyroidism. |
Im Jeong Choi, Jung Sub Lim, Choong Ho Shin, Sei Won Yang |
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Abstract |
PURPOSE Pseudohypoparathyroidism(PHP) is caused by a defect of G protein and receptor despite of normal parathyroid hormone(PTH) secretion. It is a rare disorder characterized by hypocalcemia, hyperphophatemia, elevated PTH levels and albright hereditory osteodystrophy(AHO). We retrospectively reviewed the clinical characteristics of PHP.
METHODS: We reviewed clinical features, laboratory findings, and outcome to treatment of 8 PHP patients, diagnosed at Seoul National University Hospital from 1988 to rool.
RESULTS Male to Female ratio was 1.7:1 and mean age at diagnosis was 11.8 years old. The initial average height SDS was 0.13+/-.08 and the average weight SDS was 0.43+/-.31.
The most common symptom was seizure. Only one patient had typical AHO, three patients had mental retardation. Brain MRI or CT showed basal ganglia calcification in 3 patients.
All patients treated with vitamin D and calcium supplementation could maintained normal serum levels of calcium and phophorus.
CONCLUSION PHP should be suspected in patient with seizure of unknown origin, aged above 5 year-old. AHO and mental retardation could be adjuvant signs to the diagnosis of PHP.
But definite diagnosis could be made by laboratory work up. |
Keywords:
Pseudohypoparathyroidism(PHP);Parathyroid hormone(PTH);Albright hereditory osteodystrophy(AHO) |
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