Macroorchidism and central precocious puberty associated with cytotoxic lesion in the corpus callosum in a child

Abstract

Background: Bilateral macroorchidism is a rare presentation and this could be idiopathic, genetic or endocrine dysfunction. Case report: We report a 7 year old boy who presented with bilateral macro-orchidism and central precocious puberty. Physical examination showed both height and weight above 95th centiles and enlarged testes. Bone age was 14 years and ultrasonography revealed grossly enlarged testes with normal echogenecity. Serum testosterone, LH and FSH levels were consistent with precocious puberty. MRI brain showed cytotoxic lesion in the corpus callosum which disappeared on follow-up imaging at 6 months. Discussion: Benign idiopathic macro-orchidism is diagnosed by exclusion. Genetic syndromes usually associated with mental retardation and dysmorphic features. Endocrine causes include hypothyroidism, congenital adrenal hyperplasia, FSH secreting pituitary adenoma and rarely aromatase deficiency. Bilateral primary testicular neoplasms are other rare cause. Central precocious puberty can present with enlarged testes but compared to idiopathic macroorchidism the testicular volume is not very high as in this case. Conclusion: This case describes occurrence of precocious puberty associated with massively enlarged testes and unusual finding of cytotoxic lesion in the corpus callosum. This case emphasize the importance of early diagnosis and treatment to preserve adult height, halt the puberty and possibly testicular enlargement.