Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations

Luis G Carvajal-Carmona, N Afrina Alam, Patrick J Pollard, Angela M Jones, Ella Barclay, Noel Wortham, Massimo Pignatelli, Alex Freeman, Sabine Pomplun, Ian Ellis, Richard Poulsom, Mona A El-Bahrawy, Daniel M Berney, Ian P M Tomlinson

Research output: Contribution to journalArticlepeer-review


Leydig cell tumors (LCTs) are the most common non-germ-cell neoplasms of the testis. LCTs are often hormonally active and can result in precocious virilization or in adult feminization. We identified an LCT in an affected individual from a kindred with hereditary leiomyomatosis and renal cell cancer (HLRCC) and a germline fumarate hydratase (FH) mutation (N64T).
Original languageEnglish
Pages (from-to)3071-5
Number of pages5
JournalJournal of Clinical Endocrinology & Metabolism
Issue number8
Publication statusPublished - Aug 2006


  • Anoxia
  • Base Sequence
  • DNA, Complementary
  • Fumarate Hydratase
  • GTP-Binding Protein alpha Subunits, Gs
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • Hypoxia-Inducible Factor 1, alpha Subunit
  • Immunohistochemistry
  • In Situ Hybridization
  • Leydig Cell Tumor
  • Male
  • Models, Molecular
  • Neovascularization, Pathologic
  • Receptors, LH
  • Sequence Analysis, DNA
  • Testicular Neoplasms
  • Vascular Endothelial Growth Factor A


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