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Issue 143 Spring 2022

Endocrinologist > Spring 2022 > Hot topics


PHAEOCHROMOCYTOMA DUE TO NOVEL SDHD VARIANT, PRESENTING AS VISUAL LOSS

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It is not uncommon for endocrinologists to receive referrals from colleagues in ophthalmology. Miller and colleagues report a more unusual instance, however, with a presentation of visual loss ultimately caused by a novel SDHD variant.

In this detailed, illustrated report, they recount the case of a 53-year-old woman who was found to have macular oedema and hypertensive retinopathy. In the hunt for causes of secondary hypertension, plasma metanephrine, normetanephrine and 3-methoxytyramine levels were discovered to be grossly elevated. The clinical team detected and removed a 7.8-cm adrenal phaeochromocytoma, which retained SDHB expression on immunohistochemistry. Subsequent next generation sequencing revealed a novel variant in exon 1 of the SDHD gene.

In an interesting discussion, guided by American College of Medical Genetics and Genomics criteria, the authors discuss the likely pathogenicity of this newly discovered variant, and its implications for the woman and her family.

Read the full article in Endocrinology, Diabetes & Metabolism Case Reports doi:10.1530/EDM-21-0107




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