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

Autor:	Kooij CD; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, The Netherlands., Mavinkurve-Groothuis AMC; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, The Netherlands., Kremer Hovinga ICL; Department of Pediatric Endocrinology, Wilhelmina Children's Hospital, 3584 EA Utrecht, The Netherlands., Looijenga LHJ; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, The Netherlands., Rinne T; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Giltay JC; Department of Medical Genetics, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands., de Kort LMO; Department of Urology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands., Klijn AJ; Department of Pediatric Urology, Wilhelmina Children's Hospital, 3584 EA Utrecht, The Netherlands., de Krijger RR; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, The Netherlands.; Department of Pathology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands., Verrijn Stuart AA; Department of Pediatric Endocrinology, Wilhelmina Children's Hospital, 3584 EA Utrecht, The Netherlands.
Jazyk:	angličtina
Zdroj:	The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2022 Nov 23; Vol. 107 (11), pp. 3035-3044.
DOI:	10.1210/clinem/dgac516
Abstrakt:	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. (© The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society.)
Databáze:	MEDLINE
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