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 |
|