Two Cases of Pseudohypoparathyroidism in Sibling.
- Author:
Seon Young YOU
;
Soo yong LEE
;
Jeh Hoon SHIN
- Publication Type:Case Report
- Keywords:
Pseudohypoparathyroidism
- MeSH:
Brachydactyly;
Calcinosis;
Humans;
Hyperphosphatemia;
Hypocalcemia;
Pseudohypoparathyroidism*;
Siblings*
- From:Journal of Korean Society of Pediatric Endocrinology
1997;2(2):255-262
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Pseudohypoparathyroidism(PHP) is an inherited metabolic disorder characterized by hypocalcemia, hyperphosphatemia and an impaired phosphaturic response to exogenous parathormone(PTH), which are caused by end organ resistance to the action of PTH. Most of these patients have, in addition, the skeletal abnormalities of Albright hereditary osteodystrophy. We report two cases of PHP, suspicious type Ia, in sibling who were presented with multiple subcutaneous soft tissue calcification similar to that seen in tumoral calcinosis and had short stature, round face, brachydactyly and metabolic abnormalities(hypocalcemia, hyperphosphatemia, increased serum PTH, and decreased 24hr urinary basal cAMP)
