Endocrine Abstracts

Introduction: Testicular tumours are very rare in children and usually present as painless enlargement of the testis. Germ cell tumours account for the majority of testicular tumours in young people and embryonal carcinomas are a common component of germ cell tumours.

Case report: 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 (Height +3 SDS and bone age advanced to 14.8 years) and examination revealed pubertal staging of G4 P4 A2 with asymmetric testes (right testis 6 mls, left testis 2 mls). Investigations revealed suppressed gonadotropins on GnRH test, testosterone concentration of 10.3 nmol/l, and normal 17OHP and adrenal androgens. Tumour markers including AFP and β-hCG were negative. MRI brain was normal and adrenal ultrasound did not reveal any masses. Following treatment with anastrazole and spironolactone, the height velocity slowed down. At the age of 11 years, the right testis was noted to be 10 mls in size whilst the left testis measured 2 mls. The repeat tumour markers were negative and a testicular ultrasound revealed scattered microcalcifications, but no evidence of tumour. At the age of 13.7 years, his treatment was stopped when he reached near adult height of 164.2 cm (+0.7 SDS, within midparental target range). At the age of 14.8 years, he presented with a grossly enlarged right testis which was hard on palpation whilst the left measured 6 mls in size. His β-hCG was >1400 IU/l. He underwent right orchidectomy and histology revealed an embryonal carcinoma with no vascular invasion. The tumour markers normalised post-surgery. Analysis of luteinizing hormone/choriogonadotropin receptor mutation is being undertaken.

Conclusion: We present a case of testicular embryonal carcinoma in a boy who presented with features suggestive of gonadotropin-independent precocious puberty 5 years previously.