A Case of Pseudohypoparathyroidism TypeⅡ 1 |
Eun Young Kim, Dae Kjun Kim, Hong Jun Lee, Eun Kyung Jung, Young Bong Park |
Department of Pediatrics, College of Medicine, Chosun University, Kwangju, Korea |
Pseudohypoparathyroidism TypeⅡ 1례 |
김은영, 김대균, 이홍준, 정은경, 박영봉 |
조선대학교 의과대학 소아과학교실 |
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Abstract |
Pseudohypoparathyroidism is characterized by target cell resistance to the effects of
parathyroid hormone and classified into various types depending on the phenotypic and
biochemical findings. Pseudohypoparathyroidism type II differs from type I in that the urinary
excretion of cAMP is elevated both in the basal state and after stimulation with PTH.
We experienced a case of pseudohypoparathyroidism type II in 12year old man who had
generalized seizure. He had hypocalcemia, hyperphosphatemia, elevated serum PTH level and
urinary basal cAMP. Also he had a normal phenotypic appearance. Bilateral basal ganglia
calcifications was detected by CT scan. |
Key Words:
Pseudohypoparathyroidism TypeⅡ |
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