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Kim, Lee, Byun, Lee, Kim, Kim, and Ko: A Case of Pseudohypoparathyroidism Type I
Case Report
Journal of Korean Society of Endocrinology

Journal of Korean Society of Endocrinology 2006; 21(4): 338-344.

Published online: 20 August 2006

DOI: https://doi.org/10.3803/jkes.2006.21.4.338

A Case of Pseudohypoparathyroidism Type I

Young Sam Kim, Seon Hwa Lee, Dong Il Byun, Won Kyu Lee, Bong Hwan Kim, Yun Hyoung Kim, Yu Soon Ko

Department of Internal Medicine, Incheon Christian Hospital, Korea.

Received 29 December 2005       Accepted 7 April 2006

Copyright © 2006 Korean Endocrine Society

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 µg), her neurological signs and symptoms as well as her biochemical abnormalities of hypocalcemia and hyperphosphatemia were improved.

Keywords: Albright's hereditary osteodystrophy, Ellsworth-Howard test, Pseudohypoparathyroidism

Figures and Tables

Fig. 1
Features of Albright's hereditary osteodystrophy, including short stature, truncal obesity (A), round face and short neck (B).
jkse-21-338-g001
Fig. 2
The skull X-ray findings. The abnormal calcifications (arrows) were observed.
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Fig. 3
The brain CT scan. That showed abnormal calcification of basal ganglia (arrows).
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Table 1
Routine laboratory data
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Table 2
Parathyroid hormone-related profile
jkse-21-338-i002

i-Ca, ionized calcium; i-PTH, immunoreactive parathyroid hormone

Table 3
Other endocrine function tests
jkse-21-338-i003

ACTH, adrenocorticotropic hormone; IGF-1, insulin like growth factor-1; FSH, follicle stimulating hormone; GH, growth hormone; LH, luteinizing hormone; TSH, thyroid stimulating hormone.

Table 4
Ellsworth-Howard test
jkse-21-338-i004

U1, urine 2 hours before parathyroid hormone (PTH) injection; U2, urine 1 hour before PTH injection; U3, urine 1 hour after PTH injection; U4, urine 2 hours after PTH injection; P, urinary phosphorous level; C , urinary cAMP level.

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