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Clin Endocrinol (Oxf). 2013 Dec;79(6):824-31. doi: 10.1111/cen.12223. Epub 2013 May 11.

No difference in phenotype of the main Dutch SDHD founder mutations.

Author information

1
Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, Leiden, The Netherlands.

Abstract

OBJECTIVE:

SDHD mutations predispose carriers to hereditary paraganglioma syndrome. The objective of this study was to assess the genotype-phenotype correlation of a large Dutch cohort of SDHD mutation carriers and evaluate potential differences in clinical phenotypes due to specific SDHD gene mutations.

DESIGN:

Retrospective, descriptive single-centre study.

PATIENTS:

All consecutive SDHD mutation carriers followed at the Department of Endocrinology of the Leiden University Medical Center were included.

MEASUREMENTS:

Subjects were investigated according to structured protocols used for standard care, including repetitive biochemical and radiological screening for paragangliomas.

RESULTS:

Two hundred and one SDHD mutation carriers with a mean age at presentation of 42·6 ± 14·4 years and a mean follow-up of 5·8 ± 5·4 years were evaluated. Eighty-one percent carried the SDHD c.274G>T (p.Asp92Tyr) mutation and 13% the SDHD c.416T>C (p.Leu139Pro) mutation. No differences in clinical phenotype between these two specific SDHD mutations were found. Ninety-one percent developed one or multiple paragangliomas in the head and neck region (HNPGLs), of which the carotid body tumour was the most prevalent (85%). Eighteen carriers developed pheochromocytomas, fifteen sympathetic paragangliomas and nine carriers (4%) suffered from malignant paraganglioma. By end of follow-up, sixteen SDHD mutation carriers (8%) displayed no biochemical or radiological evidence of manifest disease.

CONCLUSIONS:

The two main Dutch SDHD founder mutations do not differ in clinical expression. SDHD mutations are associated with the development of multiple HNPGLs and predominantly benign disease.

PMID:
23586964
DOI:
10.1111/cen.12223
[Indexed for MEDLINE]

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