RESUMEN
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.
Asunto(s)
Ganglios Basales , Hiperfosfatemia , Hipocalcemia , Hormona Paratiroidea , Seudohipoparatiroidismo , Convulsiones , Tomografía Computarizada por Rayos XRESUMEN
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.