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SDHD Gene Mutations: Looking Beyond Head and Neck Tumors.

Sushma Kadiyala1, Yasmin Khan1, Valeria de Miguel2

  • 1Department of Internal Medicine, Division of Endocrinology & Metabolism, University of Florida and the Malcolm Randall VA Medical Center, Gainesville, FL.

AACE Clinical Case Reports
|July 31, 2025
PubMed
Summary

Succinate dehydrogenase complex, subunit D (SDHD) gene mutations can cause early-onset, bilateral pheochromocytoma and paraganglioma. These findings suggest SDHD mutations should be considered in young patients with functional adrenal tumors.

Keywords:
Bilateral pheochromocytomasSDHD mutationparaganglioma

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Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Succinate dehydrogenase complex, subunit D (SDHD) gene mutations are typically linked to head and neck paragangliomas.
  • Hereditary pheochromocytoma (PCC) and paraganglioma (PGL) syndromes can present with early-onset and bilateral tumors.

Purpose of the Study:

  • To report two cases of early-onset, bilateral PCC/PGL syndrome associated with SDHD mutations.
  • To highlight the potential for SDHD mutations to cause functional adrenal tumors in young patients.

Main Methods:

  • Case report of two patients presenting with bilateral PCC/PGL.
  • Genetic analysis including gene sequencing and deletion/duplication analysis of the SDHD gene.
  • Diagnostic imaging including positron emission tomography coupled with computed tomography.

Main Results:

  • Both patients presented before age 30 with bilateral PCC and PGL.
  • Case 1 had an exon 2 deletion in SDHD; Case 2 had a frameshift mutation in exon 3.
  • Surgical resection and adrenal-ectomies led to normalization of catecholamines.

Conclusions:

  • SDHD mutations should be considered in the evaluation of young patients with functional, bilateral adrenal PCC.
  • This expands the known clinical spectrum of SDHD-associated tumors beyond head and neck paragangliomas.