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. 2018 Oct 4;7(12):1217–1225. doi: 10.1530/EC-18-0325

Table 1.

Characteristics of patients carrying SDH gene mutations.

Patient one Patient two Patient three
Gene SDHB SDHB SDHD
Gender/age Male/14 Male/32 Female/45
Site Post-caval Para-aortic Bifurcation of abdominal aorta
Size (cm) 5.1 × 3.4 3 × 2 × 2 2.9 × 2.7
Diagnosis PGL PGL Hereditary PGL
Headache +
Palpitation + +
Diaphoresis +
Dizziness +
Nausea + +
Hypertension (mmHg) 208/156 160/100 154/75
Nucleotide change c.343C>T c.541-2A>G c.334_337delACTG
Mutation P.Arg115Ter IVS5-2A>G p.Asp113Metfs*21
Mutation type Detrimental mutation Pathogenic Pathogenic
Heterozygous Het Het Het
Aldosterone (erect position/decubitus; ng/mL) 0.254/0.257 NA 0.13/0.14
Cortisol (8/16/24 h; ng/mL) NA NA 215/261/102
Increased E NA NA NA
Increased NE NA 1.89 ng/mL NA
VMA 72.0 µmol/24 h 178.36 µmol/24 h
MN 5.1 µmol/24 h
PTH 41.04 pg/mL NA NA
17-OH 13.5 µmol/24 h
17-KS 30.2 µmol/24 h
Renin NA 35.71 µIU/mL; 50.38 µIU/mL (2 h after motivated) 1.08 ng/mL0.75 ng/mL
PRA (erect position/decubitus; ng/mL) NA NA 1.08/0.75
Angiotensin II (erect position/decubitus; pg/mL) NA NA 39/35
ARR (erect position/decubitus) NA NA 12/18
ACTH (8/16/24 h; pg/mL) NA NA 10.30/11.15/9.32
Other disease Thyroid nodule Atrial flutter HNPGL; renal cyst
Metastasis
Follow-up (months) 76 5 41
Outcome NED NED NED

‘+’ represented existence of this phenotype, ‘–’ nonexistence; 17-KS, 17-ketosteroid; 17-OH, 17-OH-corticosteroid; ACTH, adrenocorticotropic hormone; ARR, aldosterone renin ratio; E, epinephrine; MN, noradrenaline; NA, not available; NE, norepinephrine; NED, no evidence of disease; PRA, plasma renin activity; PTH, parathyroid hormone; VMA, vanillylmandelic acid.