J Korean Endocr Soc.
2009 Sep;24(3):195-200. 10.3803/jkes.2009.24.3.195.
A Case of Pseudohypoparathyroidism Worsened by Rhabdomyolysis
- Affiliations
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- 1Department of Internal Medicine, Hanyang University Guri Hospital, Korea.
- KMID: 2178182
- DOI: http://doi.org/10.3803/jkes.2009.24.3.195
Abstract
- The term pseudohypoparathyroidism describes a rare disorder characterized by resistance to the action of immunoreactive parathyroid hormone (PTH) in peripheral tissue rather than a deficiency of PTH. Patients present with tetany, spasm, hypocalcemia, hyperphosphatemia, and Albright's hereditary osteodystrophy (AHO). We present a case of symptomatic hypocalcemia due to pseudohypoparathyroidism aggravated by rhabdomyolysis. A 21-year-old man presented with tetany, AHO phenotypes and an ankle infection. Rhabdomyolysis was confirmed by marked elevation of serum creatine phosphokinase, more than 10 times above normal. Spasm was observed and the serum value of total calcium was as low as 3.7 mg/dL and that of phosphate was as high as 7.0 mg/dL, and the peak level of PTH was at 80.4 pg/mL. Although not surveyed by Ellsworth-Howard test and molecular study, it was classified as pseudohypoparathyroidism type 1a or 1c. The clinical and laboratory abnormalities were corrected by vitamin D in addition to calcium. The patient's mother, sister, and grandmother had AHO phenotypes without clinical and biochemical manifestations. To the best of our knowledge, this is the first case by maternal inheritance that AHO phenotypes appear for three generations of a family in Korea.
Keyword
MeSH Terms
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Animals
Ankle
Calcium
Creatine Kinase
Family Characteristics
Fibrous Dysplasia, Polyostotic
Humans
Hyperphosphatemia
Hypocalcemia
Korea
Mothers
Parathyroid Hormone
Phenotype
Pseudohypoparathyroidism
Rhabdomyolysis
Siblings
Spasm
Tetany
Vitamin D
Wills
Young Adult
Calcium
Creatine Kinase
Fibrous Dysplasia, Polyostotic
Parathyroid Hormone
Vitamin D
Figure
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Fig. 1 The pedigree of the patient reveals an affected family with AHO phenotypes by maternal inheritance.
Fig. 2 A. The patient's mother shows short stature, short neck, obesity, and round face without other clinical and laboratory abnormalities. B. The patient shows Albright's hereditary osteodystrophy with mental retardation.
Fig. 3 A. Shortening of 4th and 5th metacarpal bones is noted at the mother's hands. B. No shortening of metacarpal bones is noted at the patient's hands.
Fig. 4 Brain CT reveals calcification at the area of basal ganglia.
Reference
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