Gonadotrophin-independent precocious puberty associated with later diagnosis of testicular embryonal carcinoma.

BACKGROUND: Testicular tumours are very rare in children. Germ cell tumours (GCTs) account for the majority of testicular tumours in young people, and embryonal carcinomas are a common component of GCTs in adolescents.

CASE PRESENTATION: A 9.8-year-old boy presented with the development of pubic and facial hair over a period of 2 years. He had a growth spurt and examination revealed pubertal staging of G4 P4 A2 with a 6-mls testis on the right and a 4-mls testis on the left. Investigations revealed suppressed gonadotrophins, a testosterone concentration of 10.3 nmol/l and normal 17-hydroxyprogesterone and adrenal androgen levels. Tumour markers were negative. Following treatment with anastrazole, his height velocity slowed down. At the age of 13.7 years, his treatment was stopped. At the age of 14.8 years, he presented with a grossly enlarged right testis and elevated beta human chorionic gonadotrophin (>1,400 IU/l). He underwent right orchidectomy and histology revealed an embryonal carcinoma with no vascular invasion. Analysis of luteinizing hormone/choriogonadotrophin receptor revealed no mutation.

CONCLUSION: We present a case of testicular embryonal carcinoma in a boy who had presented 5 years before with features suggestive of gonadotrophin-independent precocious puberty.