Home > E. Pathology by systems > Reproductive system > Male genital system > Testis > testicular Leydig cell tumor
testicular Leydig cell tumor
Wednesday 6 October 2010
Digital cases
HPC:119 : Leydig cell tumor of the testis.
JRC:18782 : Testis intestitial cell tumor.
Clinical synopsis
male LH-independent sexual precocity (11889161)
Genetics
Adult leydig cell tumors of the testis can be caused by germline fumarate hydratase (FH) mutations. (16757530)
Cytogenetics
Molecular-cytogenetic study indicates chromosomal imbalances in the majority of our cases (21/25, 84%). The most frequent findings were gain of chromosome X, 19 or 19p and loss on chromosome 8 and 16.
References
Leydig cell tumors of the testis: a molecular-cytogenetic study based on a large series of patients. Verdorfer I, Horst D, Höllrigl A, Susani M, Hartmann A, Rogatsch H, Mikuz G. Oncol Rep. 2007 Mar;17(3):585-9. PMID: 17273737
Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations. Carvajal-Carmona LG, Alam NA, Pollard PJ, Jones AM, Barclay E, Wortham N, Pignatelli M, Freeman A, Pomplun S, Ellis I, Poulsom R, El-Bahrawy MA, Berney DM, Tomlinson IP. J Clin Endocrinol Metab. 2006 Aug;91(8):3071-5. PMID: 16757530
Male LH-independent sexual precocity in a 3.5-year-old boy caused by a somatic activating mutation of the LH receptor in a Leydig cell tumor. Richter-Unruh A, Wessels HT, Menken U, Bergmann M, Schmittmann-Ohters K, Schaper J, Tappeser S, Hauffa BP. J Clin Endocrinol Metab. 2002 Mar;87(3):1052-6. PMID: 11889161 [Free]
