J Korean Endocr Soc.  2009 Jun;24(2):132-137. 10.3803/jkes.2009.24.2.132.

A Case of Pseudohypoparathyroidism without Albright's Hereditary Osteodystrophy in an Adult

• Lee Y
• Roh J
• Yoo JS
• Han J
• Nam J
• Cho M
• Park J
• Ahn C
• Kim K

• KMID: 1468509
• DOI: http://doi.org/10.3803/jkes.2009.24.2.132

Abstract

Pseudohypoparathyroidism is a rare disease caused by resistance to parathyroid hormone, and is associated with typical clinical typical symptoms such as tetany and seizures, hypocalcemia, hyperphosphatemia and increased parathyroid hormone levels. Pseudohypoparathyroidism is classified to Type Ia, Ib, Ic and II according to the clinical and biochemical manifestations. Type Ia and Ic have morphological characteristics called Albright's hereditary osteodystrophy. Type Ib differs from type II for the pathogenesis. Type Ib may~receptors and type II may~ pathway, but the pathophysiology of type II is not clear yet. Administration of parathyroid hormone extract may help to distinguish between the two types. We report a case of a pseudohypoparathyroidism type Ib or II patient who had tetany, hypocalcemia and hyperphosphatemia with normal morphologic features.

Keyword

hypocalcemia; pseudohypoparathyroidism

MeSH Terms

Adult
Fibrous Dysplasia, Polyostotic
Humans
Hyperphosphatemia
Hypocalcemia
Parathyroid Hormone
Pseudohypoparathyroidism
Rare Diseases
Seizures
Tetany
Fibrous Dysplasia, Polyostotic
Parathyroid Hormone

Figure

• 

  Fig. 1 The contour of patient's face. No gross abnormality.

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  Fig. 2 A. The contour of patient's hand. No gross abnormality. B. The contour of patient's hand. No gross abnormality.

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  Fig. 3 Brain CT image. Symmetric high attenuation is noted in the basal ganglia and dentate nucleus suggesting calcification.

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  Fig. 4 Electroencephalography (EEG). EEG shows normal pattern.

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  Fig. 5 Both hand AP image. No gross bony abnormality.

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