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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
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.
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.
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