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Case ReportOpen Access
Peripheral Precocious Puberty in a Male Caused by Leydig Cell Adenoma Harboring a Somatic Mutation of the LHR Gene: Report of a Case
Sangkhathat S 
,
Kanngurn S ,
Jaruratanasirikul S ,
Tubtawee T ,
Chaiyapan W ,
Patrapinyokul S ,
Chiengkriwate P
,
Kanngurn S ,
Jaruratanasirikul S ,
Tubtawee T ,
Chaiyapan W ,
Patrapinyokul S ,
Chiengkriwate P While a germline activating mutation of the luteinizing hormone receptor (LHR) gene is known to cause autonomous
production of testosterone from testicular Leydig cells in male-limited precocious puberty, only a few studies have addressed
the role of somatic LHR mutation in testicular pathology. The authors report a case of a 6-year-old boy who developed
secondary sex characteristics including facial acne, enlarging genitalia, and aggressive behavior, for which serial biochemical
evaluation confirmed the status of peripheral precocious puberty. Examination revealed asymmetrical testicular volume,
following which a left testicular tumor was detected through ultrasonography. A left orchiectomy was performed, and
histopathology revealed a well-circumscribed Leydig cell tumor. Molecular study of the exon 11 of the LHR gene revealed a
missense mutation at the nucleotide position 1,732, leading to a substitution of histidine for aspartic acid at codon 578.
Interestingly, the substitution was consistent with all previously reported LHR alteration in pediatric Leydig cell adenoma, but
which had never before been reported in male-limited precocious puberty, suggesting that the mutation is a molecular
signature of the adenoma.
Keywords: Pediatric Leydig cell tumor, Luteinizing hormone receptor, LHR
production of testosterone from testicular Leydig cells in male-limited precocious puberty, only a few studies have addressed
the role of somatic LHR mutation in testicular pathology. The authors report a case of a 6-year-old boy who developed
secondary sex characteristics including facial acne, enlarging genitalia, and aggressive behavior, for which serial biochemical
evaluation confirmed the status of peripheral precocious puberty. Examination revealed asymmetrical testicular volume,
following which a left testicular tumor was detected through ultrasonography. A left orchiectomy was performed, and
histopathology revealed a well-circumscribed Leydig cell tumor. Molecular study of the exon 11 of the LHR gene revealed a
missense mutation at the nucleotide position 1,732, leading to a substitution of histidine for aspartic acid at codon 578.
Interestingly, the substitution was consistent with all previously reported LHR alteration in pediatric Leydig cell adenoma, but
which had never before been reported in male-limited precocious puberty, suggesting that the mutation is a molecular
signature of the adenoma.
Keywords: Pediatric Leydig cell tumor, Luteinizing hormone receptor, LHR
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