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Familial Male-limited Precocious Puberty (FMPP) and Testicular Germ Cell Tumors.
Kooij, Cezanne D; Mavinkurve-Groothuis, Annelies M C; Kremer Hovinga, Idske C L; Looijenga, Leendert H J; Rinne, Tuula; Giltay, Jacques C; de Kort, Laetitia M O; Klijn, Aart J; de Krijger, Ronald R; Verrijn Stuart, Annemarie A.
Afiliación
  • 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.
  • Verrijn Stuart AA; Department of Pathology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.
J Clin Endocrinol Metab ; 107(11): 3035-3044, 2022 11 23.
Article en En | MEDLINE | ID: mdl-36071555
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pubertad Precoz / Neoplasias Testiculares Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies / Systematic_reviews Límite: Adolescent / Adult / Humans / Male Idioma: En Revista: J Clin Endocrinol Metab Año: 2022 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pubertad Precoz / Neoplasias Testiculares Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies / Systematic_reviews Límite: Adolescent / Adult / Humans / Male Idioma: En Revista: J Clin Endocrinol Metab Año: 2022 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos