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Case report
peer-reviewed

Classic and Non-Classic Features in Pseudohypoparathyroidism: Case Study and Brief Literature Review



Abstract

Pseudohypoparathyroidism is a rare condition that is due to a defect in the stimulatory G-protein coupled receptor, resulting in end-organ resistance to parathyroid hormone. Hereditary forms of pseudohypoparathyroidism present with certain classic features such as obesity, short stature, brachydactyly, and intellectual disability. Constellation of these physical features is known as Albright's hereditary osteodystrophy. In this case, 41-year-old male presented with the classic features of pseudohypoparathyroidism and with 59 lbs weight gain over six months. It was determined that the cause of the patient’s weight gain was due to concomitant hypothyroidism, which is a common association. There are several non-classic features and associated pathologies associated with pseudohypoparathyroidism. These conditions should be regularly screened for and assessed when a patient presents with pseudohypoparathyroidism.



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Case report
peer-reviewed

Classic and Non-Classic Features in Pseudohypoparathyroidism: Case Study and Brief Literature Review


Author Information

Aaron R. Kuzel

Department of Emergency Medicine, Lincoln Memorial University-Debusk College of Osteopathic Medicine

Muhammad Uzair Lodhi

Medical Student, Department of Medicine, Raleigh General Hospital, Beckley, Wv

Mustafa Rahim Corresponding Author

Assistant Clinical Professor of Internal Medicine, West Virginia University School of Medicine

Adjunct Faculty, Lincoln Memorial University, School of Medicine


Ethics Statement and Conflict of Interest Disclosures

Human subjects: Consent was obtained by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.


Case report
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Classic and Non-Classic Features in Pseudohypoparathyroidism: Case Study and Brief Literature Review


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Case report
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Classic and Non-Classic Features in Pseudohypoparathyroidism: Case Study and Brief Literature Review

Aaron R. Kuzel">Aaron R. Kuzel, Muhammad Uzair Lodhi ">Muhammad Uzair Lodhi , Mustafa Rahim ">Mustafa Rahim

  • Author Information
    Aaron R. Kuzel

    Department of Emergency Medicine, Lincoln Memorial University-Debusk College of Osteopathic Medicine

    Muhammad Uzair Lodhi

    Medical Student, Department of Medicine, Raleigh General Hospital, Beckley, Wv

    Mustafa Rahim Corresponding Author

    Assistant Clinical Professor of Internal Medicine, West Virginia University School of Medicine

    Adjunct Faculty, Lincoln Memorial University, School of Medicine


    Ethics Statement and Conflict of Interest Disclosures

    Human subjects: Consent was obtained by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

    Acknowledgements


    Article Information

    Published: November 26, 2017

    DOI

    10.7759/cureus.1878

    Cite this article as:

    Kuzel A R, Lodhi M, Rahim M (November 26, 2017) Classic and Non-Classic Features in Pseudohypoparathyroidism: Case Study and Brief Literature Review . Cureus 9(11): e1878. doi:10.7759/cureus.1878

    Publication history

    Received by Cureus: November 20, 2017
    Peer review began: November 22, 2017
    Peer review concluded: November 22, 2017
    Published: November 26, 2017

    Copyright

    © Copyright 2017
    Kuzel et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 3.0., which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

    License

    This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Pseudohypoparathyroidism is a rare condition that is due to a defect in the stimulatory G-protein coupled receptor, resulting in end-organ resistance to parathyroid hormone. Hereditary forms of pseudohypoparathyroidism present with certain classic features such as obesity, short stature, brachydactyly, and intellectual disability. Constellation of these physical features is known as Albright's hereditary osteodystrophy. In this case, 41-year-old male presented with the classic features of pseudohypoparathyroidism and with 59 lbs weight gain over six months. It was determined that the cause of the patient’s weight gain was due to concomitant hypothyroidism, which is a common association. There are several non-classic features and associated pathologies associated with pseudohypoparathyroidism. These conditions should be regularly screened for and assessed when a patient presents with pseudohypoparathyroidism.



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Create a free account to continue reading this article.

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Aaron R. Kuzel, Medical Student

Department of Emergency Medicine, Lincoln Memorial University-Debusk College of Osteopathic Medicine

Muhammad Uzair Lodhi , Medical Student

Medical Student, Department of Medicine, Raleigh General Hospital, Beckley, Wv

Mustafa Rahim , M.D.

Assistant Clinical Professor of Internal Medicine, West Virginia University School of Medicine

For correspondence:
mustafarahim111@gmail.com

Aaron R. Kuzel, Medical Student

Department of Emergency Medicine, Lincoln Memorial University-Debusk College of Osteopathic Medicine

Muhammad Uzair Lodhi , Medical Student

Medical Student, Department of Medicine, Raleigh General Hospital, Beckley, Wv

Mustafa Rahim , M.D.

Assistant Clinical Professor of Internal Medicine, West Virginia University School of Medicine

For correspondence:
mustafarahim111@gmail.com