Precocious puberty in an infant with hepatoblastoma: a case report

Abstract

Introduction: The syndrome of isosexual precocious puberty associated with primary malignant hepatic tumors is rare. All previously reported cases in the literature are old and prognosis was grim.

Case presentation: We present the case of a 15-month-old Asian male baby who presented with precocious puberty associated with hepatoblastoma. Serum concentrations of alpha-fetoprotein and free testosterone were elevated, as was beta human chorionic gonadotropin hormone. He was treated with six courses of chemotherapy and underwent surgery. His surface markers as well as free testosterone level returned to normal during therapy. The child has now been off therapy for 18 months with no evidence of tumor recurrence at follow-up.

Conclusion: Virilizing hepatoblastoma is rare and reported with poor outcome, but the development of new chemotherapeutic agents and complete surgical resection are promising.

Figure 1

Photograph of patient's genitalia at 15 months of age. Shows large pigmented scrotum (light arrow), scant pubic hair [not clear on the picture] (dark arrow) and penile enlargement (10 cm stretched length).

Figure 2

CT scan of the liver showing the hepatic tumor. (A) Involvement of the right hepatic lobe; (B) area calcification and IVC extension.

Figure 3

Postsurgical histopathology showing chemotherapy effect. (A) Fibrosis, hyalinization and myxomatous changes seen in 30% of the tumor size; (B) free surgical resection margin; (C) background of mixed epithelial mesenchymal hepatoblastoma with a predominant epithelial subtype.