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Metastatic Adrenocortical Carcinoma as an Unusual Cause of Hypercortisolism in McCune-Albright Syndrome: a Case Report

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Abstract

McCune-Albright Syndrome (MAS) is a mosaic genetic disorder characterized by polyostic fibrous dysplasia, precocious puberty, and café-au-lait skin spots. Due to the affection of various organs, now the clinical spectrum of presentation extends beyond the classical triad. Multiple associated endocrinopathies contribute majorly to the morbidity and mortality of patients. We present a case of a 9-year-old female child affected with MAS with hypercortisolism secondary to a neoplastic adrenal mass lesion with hepatic, pulmonary, and cerebral metastasis. The initial presenting symptom was altered mental sensorium with imaging features suggesting posterior reversible encephalopathy syndrome. Other associated endocrinopathies were also detected. The outcome, unfortunately, was fatal within 22 days of initial presentation. Association of endocrinopathies are common occurrence on cases of MAS; hence, patients must be adequately evaluated for them to prevent morbidity and mortality.

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Data Availability

All data supporting the findings of this case study are available within the paper.

Data Availability

N/A.

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Abbreviations

MAS :

McCune-Albright Syndrome

GNAS1 :

Guanine nucleotide-binding protein, alpha stimulating

ACTH :

Adrenocorticotropic hormone

DHEAS :

Dehydroepiandrosterone sulfate

MRI :

Magnetic resonance imaging

FLAIR :

Fluid attenuated inversion recovery

USG :

Ultrasonography

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Funding

No funding for received for this research.

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Authors and Affiliations

  1. Department of Radiodiagnosis, All India Institute of Medical Sciences, Rishikesh, India

    Garima Sharma & Poonam Sherwani

  2. Department of Endocrinology, All India Institute of Medical Sciences, Rishikesh, India

    Kalyani Sridharan

Authors
  1. Garima Sharma
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  2. Poonam Sherwani
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  3. Kalyani Sridharan
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Contributions

GS, attending physician: drafted and revised the manuscript for intellectual content.

PS, attending physician: revised the manuscript for intellectual content.

KS, attending physician: revised the manuscript for intellectual content.

Corresponding author

Correspondence to Poonam Sherwani.

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Ethics Approval

There ethical approval was waived off the ethical committee for this case report.

Consent to Participate

Patient as well as patient’s next of kin have provided informed and written consent for the participation (as patient was minor and died during the course of treatment).

Consent to Publish

Patient as well as patient’s next of kin have provided informed and written consent for the publication (as patient was minor and died during the course of treatment).

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The authors declare no competing interests.

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Sharma, G., Sherwani, P. & Sridharan, K. Metastatic Adrenocortical Carcinoma as an Unusual Cause of Hypercortisolism in McCune-Albright Syndrome: a Case Report. SN Compr. Clin. Med. 6, 1 (2024). https://doi.org/10.1007/s42399-023-01630-w

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  • DOI: https://doi.org/10.1007/s42399-023-01630-w

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