J Korean Soc Endocrinol.
2006 Aug;21(4):338-344. 10.3803/jkes.2006.21.4.338.
A Case of Pseudohypoparathyroidism Type I
- Affiliations
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- 1Department of Internal Medicine, Incheon Christian Hospital, Korea.
- KMID: 2200850
- DOI: http://doi.org/10.3803/jkes.2006.21.4.338
Abstract
- Pseudohypoparathyroidism (PHP) is a rare clinical type of hypoparathyroidism. The patients with PHP show classic clinical and biochemical features of hypoparathyroidism, but elevated serum level of parathyroid hormone (PTH) and characteristic physical appearances termed 'Albright's hereditary osteodystrophy' (AHO). PHP is classified into types Ia, Ib, Ic and II according to the presence of AHO phenotype and the mechanism of PTH resistance. We experienced a case of PHP in a 12 year-old girl with carpopedal spasm, syncope and partial AHO. She showed very low serum calcium level (1.4 mmol/L), high phosphorus level (3.62 mmol/L) and high immunoreactive PTH level (186.6 ng/L). In the Ellsworth-Howard test, urinary cyclic adenosine monophosphate and phosphorus levels after an exogenous PTH injection remained unchanged. Therefore, we were able to classify the patient as either PHP type Ia or Ic. After the patient had been treated with daily calcium carbonate (1 g), cholecalciferol (250 IU) and calcitriol (0.5 microgram), her neurological signs and symptoms as well as her biochemical abnormalities of hypocalcemia and hyperphosphatemia were improved.
MeSH Terms
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Adenosine Monophosphate
Calcitriol
Calcium
Calcium Carbonate
Child
Cholecalciferol
Female
Humans
Hyperphosphatemia
Hypocalcemia
Hypoparathyroidism
Parathyroid Hormone
Phenotype
Phosphorus
Pseudohypoparathyroidism*
Spasm
Syncope
Adenosine Monophosphate
Calcitriol
Calcium
Calcium Carbonate
Cholecalciferol
Parathyroid Hormone
Phosphorus
Figure
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Fig. 1 Features of Albright's hereditary osteodystrophy, including short stature, truncal obesity (A), round face and short neck (B).
Fig. 2 The skull X-ray findings. The abnormal calcifications (arrows) were observed.
Fig. 3 The brain CT scan. That showed abnormal calcification of basal ganglia (arrows).
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