title: Familial carotid body tumors in patients with SDHD mutations: a case series.
abstract: OBJECTIVE
  To describe a family with hereditary paraganglioma due to a disease-causing mutation in the SDHD gene.
  
  
  METHODS
  We present the clinical findings, diagnostic test results, treatment, and genetic test results in a family with hereditary paraganglioma.
  
  
  RESULTS
  Three siblings with bilateral carotid body tumors presented at different time points and with varied clinical presentations. While the proband, a 20-year-old man, was not hypertensive and had normal urinary metanephrine and normetanephrine levels, his sister and brother had a more severe clinical picture, with hypertension in both and elevated normetanephrine levels in his brother (his brother had pheochromocytoma and 2 intra-abdominal paragangliomas). Mean age at presentation was 24 years. A 4-base pair frameshift mutation, c.337-340delGACT, was detected in exon 4 of the SDHD gene in all 3 patients.
  
  
  CONCLUSIONS
  This is the first report of the c.337-340delGACT mutation being associated with hereditary paraganglioma; this report emphasizes the need to screen all at-risk first-degree relatives for the disease-causing SDHD mutation once it has been identified in an affected family member.
authors.affiliation: Department of Endocrinology, Christian Medical College, Vellore, India.
authors.forename: Nitin
authors.initials: N
authors.lastname: Kapoor
authors.forename: Rekha
authors.initials: R
authors.lastname: Pai
authors.forename: Andrew
authors.initials: A
authors.lastname: Ebenazer
authors.forename: Indrani
authors.initials: I
authors.lastname: Sen
authors.forename: Edwin
authors.initials: E
authors.lastname: Stephen
authors.forename: Sunil
authors.initials: S
authors.lastname: Agarwal
authors.forename: M J
authors.initials: MJ
authors.lastname: Paul
authors.forename: Simon
authors.initials: S
authors.lastname: Rajaratnam
mesh_terms: D000328:Adult; D002345:Carotid Body Tumor / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D013385:Succinate Dehydrogenase / Q000235:genetics*; D055815:Young Adult
chemical_list: D013385:Succinate Dehydrogenase