Sangkhathat Surasak, Kanngurn Samornmas, Jaruratanasirikul Somchit, Tubtawee Teeravut, Chaiyapan Walawee, Patrapinyokul Sakda, Chiengkriwate Piyawan
Tumor Biology Research Group, Faculty of Medicine, Prince of Songkla University, Hatyai, Songkhla, Thailand.
J Med Assoc Thai. 2010 Sep;93(9):1093-7.
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.
虽然已知促黄体生成素受体（LHR）基因的种系激活突变会导致男性局限性性早熟时睾丸间质细胞自主产生睾酮，但仅有少数研究探讨了体细胞LHR突变在睾丸病理中的作用。作者报告了一例6岁男孩，其出现了包括面部痤疮、生殖器增大和攻击性行为在内的第二性征，连续生化评估证实为外周性早熟。检查发现睾丸体积不对称，随后通过超声检查发现左侧睾丸肿瘤。进行了左侧睾丸切除术，组织病理学显示为边界清楚的间质细胞瘤。对LHR基因第11外显子的分子研究发现，核苷酸位置1732处存在错义突变，导致密码子578处的天冬氨酸被组氨酸取代。有趣的是，该取代与先前报道的所有小儿间质细胞腺瘤中的LHR改变一致，但此前从未在男性局限性性早熟中报道过，这表明该突变是腺瘤的分子特征。
