The proband was a 34-year-old female with bilateral adrenal masses detected by ultrasonography. The patient did not have headaches, palpitations, predilection to sweating, nor other complaints. Physical examination was normal for her, including blood pressure. Family history of diseases was initially denied. Plasma cortisol, renin, angiotensin and aldosterone were all within normal values, except for urinary vanilmandelic acid (VMA), which was 114.2 µmol/day (normal range: 10–30 µmol/day). Computed tomography of the adrenal glands showed: (I) bilateral adrenal masses, both suggestive of PCCs; (II) a hepatic haemangioma in the left lobe (Figure 1A). Therefore, PCCs were highly suspected. The patient was given Prazosin regularly for 2 weeks, and laparoscopic bilateral partial adrenalectomy (LBPA) was finally performed. Later, histopathological examination confirmed that she had bilateral PCCs.
PatientID: III-2
KindredID: 1
Case: F, 34Y0M, Chinese
DiseaseAssertion: VHL
FamilyInfo: Four of 25 members of a Chinese family were found to harbour the p.Val98His mutation of the VHL gene with clinical VHL manifestations, and another 11 members of this family had this mutation but had no clinical manifestations of VHL. The patient’s brother (III-3), age 33, was found to have right adrenal PCC. The patient’s mother (II-1), age 61, was also found to have a right adrenal PCC. She also had a right RA (retinal angioma) approximately 10 years prior. Finally, the patient's cousin (III-4), male of age 31, had a right adrenal PCC 10 years prior and was found to have a left adrenal PCC.
CasePresentingHPOs: HP:0006748; HP:0031207 (Adrenal pheochromocytoma, Hepatic hemangioma)
CaseHPOFreeText: The patient was a 34-year-old Chinese female with bilateral adrenal masses detected by ultrasonography. Physical examination including blood pressure was normal. Computed tomography (CT) of the adrenal glands showed: (I) bilateral adrenal masses, both suggestive of PCCs; (II) a hepatic haemangioma in the left lobe (Figure 1A). A laparoscopic bilateral partial adrenalectomy (LBPA) was performed and histopathological examination confirmed bilateral PCCs.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.Y98H (c.292T>C)
ClinVarID: 2223, https://www.ncbi.nlm.nih.gov/clinvar/variation/2223/
gnomAD: 0.00001343, https://gnomad.broadinstitute.org/variant/3-10183823-T-C
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: Y98H(c.292T>C)
MultipleGeneVariants: N/A