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A Case Report of a 14 Year Old Male with Pseudohypoparathyroidism Associated with Multiple Hormonal Resistance

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Abstract

Albright hereditary osteodystrophy (AHO) is a rare hereditary metabolic disorder that may or may not be associated with resistance to parathyroid hormone (pseudohypoparathyroidism) or other hormones. The disorder is commonly characterized by a constellation of dysmorphic physical features and with biochemical levels that demonstrate hypocalcaemia and hyperphosphatemia. We report here a clinical case of a 14 year old male with AHO and we discuss his clinical features, radiographic and laboratory findings along with treatment.

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References

  1. Coe FL, Favus MJ. Disorders of bone and mineral metabolism.2nd ed. 1998.p. 580-5; OMIM Online Mendelian Inheritance in man http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?103580.

  2. Potts JT Jr. Diseases of parathyroid gland. In: Braunwald E, Fauci AS, Kasper DL, Hauser SL, Longo DL, Jameson JL, editors. Principles of internal medicine, vol. 2. 15th ed. New York: McGraw-Hill; 2003. p. 2227–47.

    Google Scholar 

  3. Levine MA, Anh TG, Klupt SF, et al. Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein G(s) as the molecular basis for Albright hereditary osteody-strophy. Proc Natl Acad Sci. 1988;85:617–21.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  4. Chase LR, Melson GL, Aurbach GD. Pseudohyperparathyroidism: defective excretion of 3′ 5″-AMP in response to parathyroid hormone. J Clin Invest. 1969;48:1832–44.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  5. Spiegel AM, Weinstein LS. Pseudohypoparathyrodism. In: Scriver CR, Beardet AL, Valle D, Sly WS, editors. The metabolic and molecular bases of inherited diseases, vol. 3. 8th ed. New York: McGraw-Hill; 1965. p. 4205–17.

    Google Scholar 

  6. Levine MA, Down RW Jr, Breslau NA, Moses AM, Marx SJ, Lasker RD, et al. Resistance to multiple hormones in patient with deficient activity of guanine nucleotide regulatory protein. Am J Med. 1983;74:545–56.

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Biochemistry, Asram Medical College, Malkapuram, Eluru, Andhra Pradesh, India

    Prasanthi Mannava & Ambika K. Devi

  2. Obesity Research Center, College of Medicine, King Saud University, Riyadh, Saudi Arabia

    Afshan Masood

Authors
  1. Prasanthi Mannava
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  2. Afshan Masood
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  3. Ambika K. Devi
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Correspondence to Prasanthi Mannava.

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Mannava, P., Masood, A. & Devi, A.K. A Case Report of a 14 Year Old Male with Pseudohypoparathyroidism Associated with Multiple Hormonal Resistance. Ind J Clin Biochem 30, 113–116 (2015). https://doi.org/10.1007/s12291-014-0445-1

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  • DOI: https://doi.org/10.1007/s12291-014-0445-1

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