Succinate dehydrogenase-related pheochromocytoma and paraganglioma (SDHx-PPGL): clinical and genetic insights from an Indian study.

ABSTRACT:

Objective

Data on succinate dehydrogenase-related pheochromocytoma and paraganglioma (SDHx PPGL) in India are limited. We describe the clinical and genetic characteristics of SDHx PPGL from a single center in western India.

Design, patients, and measurements

A retrospective review of SDHx PPGL patients was performed for clinical, imaging, genetic, and treatment details.

Results

Among 46 patients (39 probands, 24 males), the median age at diagnosis was 32.5 (IQR: 23-41) years. We report the youngest patient with SDHC (age 8 years). SDHB mutations were the most prevalent (24/39 probands), followed by SDHD, SDHC, SDHA, and SDHAF2. We report the first Indian family with the SDHAF2 c.232G>A mutation (paternal inheritance) and the index patient with metastasis. Paragangliom

SUBMITTER: Ambulkar KS 

PROVIDER: S-EPMC12508308 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature