Korean J Bone Metab > Volume 17(2); 2010 > Article
Korean Journal of Bone Metabolism 2010;17(2):115-120.
A Case of Pseudohypoparathyroidism Type Ib Diagnosed by Ellsworth-Howard Test
Ellsworth-Howard 검사로 진단된 가성부갑상선기능저하증 Ib형 1예
조경민,박소희,황유철,정인경,안규정,정호연,전숙,오승준,우정택,김성운,김진우,김영설
경희대학교
Abstract
Pseudohypoparathyroidism (PHP) is a hereditary disorder characterized by symptoms and signs of hypocalcemia and distinctive skeletal defects such as Albright's hereditary osteodystrophy (AHO). PHP mimics hormone-deficient forms of hypoparathyroidism, with hyopcalcemia and hyperphosphatemia, but the parathyroid hormone (PTH) is elevated. Hypocalcemia of PHP is due to a deficient end-organ response to PTH. PHP is classified into four different subtypes (Ia, Ib, Ic, II) based on the presence or the absence of additional endocrine abnormalities, deficiency of the α-subunit of the stimulatory G protein, and the dysmorphic features of AHO. We report a case of PHP type Ib diagnosed by Ellsworth-Howard test. [Korean Journal of Bone Metabolism, 17(2): 115-120, 2010]
Key Words: Ellsworth-Howard s test, Hypocalcemia, Pseudohypoparathyroidism
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