Objective
The purpose of this study is to report development of a malignant testicular germ cell tumor (GCT) in two young adult males with Familial Male-limited Precocious Puberty (FMPP) due to (LHCGR) pathogenic variants in two families. Secondary, to study the possible relation between FMPP and testicular tumors and to investigate whether FMPP might predispose to development of malignant testicular tumors in adulthood a literature review is conducted.
Methods
Data on six cases in two families are obtained from the available medical records. In addition, a database search is performed in Cochrane, Pubmed and Embase for studies that report on a possible link between FMPP and testicular tumors.
Results
The characteristics of six males with FMPP based on activating luteinizing hormone receptor (LHCGR) germline pathogenic variants are described, as well as details of the testicular GCTs. Furthermore, literature review identified four more patients with signs of FMPP and a (precursor of a) testicular GCT in adolescence or adulthood (age 15 to 35 years). Additionally, twelve patients with signs of precocious puberty and, simultaneously, occurrence of a Leydig cell adenoma or Leydig cell hyperplasia are reported.
Conclusion
There is a strong suggestion that FMPP might increase the risk of development of testicular GCTs in early adulthood compared to the risk in the general population. Therefore, prolonged patient monitoring from mid-pubertal age onwards including instruction for self-examination and periodic testicular ultrasound investigation in patients with a germline LHCGR pathogenic variants might contribute to early detection and thus early treatment of testicular GCT.