Familial Male-Limited Precocious Puberty (FMPP) and Testicular Germ Cell Tumors

Cezanne D Kooij, Annelies M C Mavinkurve-Groothuis, Idske C L Kremer Hovinga, Leendert H J Looijenga, Tuula Rinne, Jacques C Giltay, Laetitia M O de Kort, Aart J Klijn, Ronald R de Krijger, Annemarie A Verrijn Stuart

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Abstract

OBJECTIVE: The purpose of this study is to report development of a malignant testicular germ cell tumor (GCT) in 2 young adult males with familial male-limited precocious puberty (FMPP) because of LHCGR pathogenic variants in 2 families. Secondarily, 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 6 cases in 2 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 6 males with FMPP based on activating LH receptor (LHCGR) germline pathogenic variants are described, as are details of the testicular GCTs. Furthermore, a literature review identified 4 more patients with signs of FMPP and a (precursor of) testicular GCT in adolescence or adulthood (age 15-35 years). Additionally, 12 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 with the risk in the general population. Therefore, prolonged patient monitoring from mid-pubertal age onward including instruction for self-examination and periodic testicular ultrasound investigation in patients with a germline LHCGR pathogenic variant might contribute to early detection and thus early treatment of testicular GCT.

Original languageEnglish
Pages (from-to)3035-3044
Number of pages10
JournalThe Journal of clinical endocrinology and metabolism
Volume107
Issue number11
Early online date8 Sept 2022
DOIs
Publication statusPublished - 1 Nov 2022

Keywords

  • activating luteinizing hormone receptor
  • familial male limited precocious puberty
  • germ cell tumors
  • peripheral precocious puberty
  • testicular tumors
  • testotoxicosis

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