Leydig-cell tumour in children: variable clinical presentation, diagnostic features, follow-up and genetic analysis of four cases

Horm Res. 2007;67(2):89-95. doi: 10.1159/000096356. Epub 2006 Oct 17.


Background: Testicular tumours are relatively uncommon in infants and children, accounting for only 1-2% of all paediatric solid tumours. Of these approximately 1.5% are Leydig-cell tumours. Further, activating mutations of the luteinizing hormone receptor gene (LHR), as well as of the G protein genes, such as Gsalpha (gsp) and Gialpha (gip2) subunits, and cyclin-dependent kinase gene 4(CDK4) have been associated with the development of several endocrine neoplasms.

Aims/methods: In this report, the clinical variability of Leydig-cell tumours in four children is described. The LHR-, gsp-, gip2- and CDK4 genes were investigated to establish the possible molecular pathogenesis of the variable phenotype of the Leydig-cell tumours.

Results: No activating mutations in these genes were found in the four Leydig-cell tumours studied. Therefore, the absence of activating mutations in LHR, as well as in both the 'hot spot' regions for activating mutations within the G-alpha subunits and in the regulatory 'hot spot' on the CDK4 genes in these tumours indicates molecular heterogeneity among Leydig-cell tumours.

Conclusion: Four children with a variable phenotype caused by Leydig-cell tumours are described. A molecular analysis of all the 'activating' genes and mutational regions known so far was performed, but no abnormalities were found. The lessons learnt from these clinically variable cases are: perform ultrasound early and most importantly, consider discrepancies between testicular swelling, tumour size and androgen production.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Androgens / blood
  • Child
  • Child, Preschool
  • Humans
  • Leydig Cell Tumor* / genetics
  • Leydig Cell Tumor* / pathology
  • Male
  • Testicular Neoplasms* / genetics
  • Testicular Neoplasms* / pathology
  • Testis / diagnostic imaging
  • Testis / pathology
  • Ultrasonography


  • Androgens