Hepatocellular carcinoma, virilization, and hilus cell hyperplasia in a girl with Turner syndrome

Jennifer R. Law, Sang Lee, Eizaburo Sasatomi, Christine E. Bookhout, Julie Blatt

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Patients with Turner syndrome (TS) are known to be at risk for excess androgen production and virilization associated with gonadoblastoma and Y chromosome mosaicism, and excess androgens are a risk factor for the development of hepatocellular carcinoma. However, virilization and hepatocellular carcinoma have not been described in a patient with TS. A 10-year-old with nonmosaic 45,X TS presented with clitoromegaly, accelerated linear growth velocity, advanced bone age, and elevated testosterone levels as well as a second occurrence of hepatocellular carcinoma. Gonadectomy was performed, and pathology revealed hilus cell hyperplasia. Immunohistochemical staining of both the original and recurrent hepatocellular carcinoma tissues was diffusely positive for androgen receptors. After gonadectomy, testosterone levels were measurable but normal, with no further virilization; however, the liver mass continued to grow. Ovarian hilus cell hyperplasia should be considered a potential etiology for virilization in the TS population. Excess endogenous testosterone exposure in girls and women with TS may be associated with hepatocellular carcinoma expressing the androgen receptor, though normalizing testosterone levels may not lead to tumor regression in these cases.

Original languageEnglish (US)
Pages (from-to)471-475
Number of pages5
JournalJournal of the Endocrine Society
Issue number5
StatePublished - May 2018
Externally publishedYes


  • Hepatocellular carcinoma
  • Hilus cell hyperplasia
  • Turner syndrome

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism


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