Open Access

A patient with pseudohypoparathyroidism type 1A previously misdiagnosed as hereditary multiple exostosis: A case report

  • Authors:
    • Jie Zhang
    • Ming Guan
    • Shiyong Zhao
    • Suling Wu
    • Lingwei Weng
    • Wenbin Sheng
  • View Affiliations

  • Published online on: July 28, 2022     https://doi.org/10.3892/etm.2022.11534
  • Article Number: 597
  • Copyright: © Zhang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Pseudohypoparathyroidism type 1A (PHP1A), a rare hereditary disorder, is featured by end‑organ resistance to parathyroid hormone and Albright's hereditary osteodystrophy. Heterozygous mutation of guanine nucleotide‑binding protein α stimulating (GNAS) gene causes the half decreased bioactivity of the Gsα protein levels. Due to the diverse early clinical manifestations of PHP1A, a diagnosis of PHP1A is often easily overlooked and misdiagnosis or missed diagnosis is common. The present study described a girl who was initially diagnosed with hereditary multiple exostoses, but was afterwards confirmed with PHP1A. Moreover, genetic analysis indicated a new mutation (c2277deIC) of the gene.

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September-2022
Volume 24 Issue 3

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Online ISSN:1792-1015

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Spandidos Publications style
Zhang J, Guan M, Zhao S, Wu S, Weng L and Sheng W: A patient with pseudohypoparathyroidism type 1A previously misdiagnosed as hereditary multiple exostosis: A case report. Exp Ther Med 24: 597, 2022
APA
Zhang, J., Guan, M., Zhao, S., Wu, S., Weng, L., & Sheng, W. (2022). A patient with pseudohypoparathyroidism type 1A previously misdiagnosed as hereditary multiple exostosis: A case report. Experimental and Therapeutic Medicine, 24, 597. https://doi.org/10.3892/etm.2022.11534
MLA
Zhang, J., Guan, M., Zhao, S., Wu, S., Weng, L., Sheng, W."A patient with pseudohypoparathyroidism type 1A previously misdiagnosed as hereditary multiple exostosis: A case report". Experimental and Therapeutic Medicine 24.3 (2022): 597.
Chicago
Zhang, J., Guan, M., Zhao, S., Wu, S., Weng, L., Sheng, W."A patient with pseudohypoparathyroidism type 1A previously misdiagnosed as hereditary multiple exostosis: A case report". Experimental and Therapeutic Medicine 24, no. 3 (2022): 597. https://doi.org/10.3892/etm.2022.11534