Clinical Genetics Unit, CMC, Vellore, India.
Lupus. 2010 Jun;19(7):870-1. doi: 10.1177/0961203309355808. Epub 2010 Feb 15.
Previously, cases of systemic lupus erythematosus (SLE) and Klinefelter syndrome (KS) in men have been reported in Western populations. We report the case of a 30-year-old man from southern India with known infertility who was diagnosed to have SLE and KS by fluorescence in-situ hybridization, as routine karyotype cultures failed. The diagnosis has implications in management and highlights the need for strong clinical suspicion and laboratory confirmation of KS by molecular methods when suspected in all men with SLE. Quicker, long-term remission and genetic counseling of such individuals can help in better management and coping with this chronic, potentially fatal disease. Lupus (2010) 19, 870-871.
先前，在西方人群中已经报道了男性系统性红斑狼疮（SLE）和克莱恩费尔特综合征（KS）的病例。我们报告了一例来自印度南部的 30 岁男性，已知其患有不育症，通过荧光原位杂交法诊断为 SLE 和 KS，因为常规核型培养失败。该诊断对治疗具有重要意义，并强调了当怀疑所有 SLE 男性均存在 KS 时，需要通过分子方法进行强烈的临床怀疑和实验室确认。对这些个体进行快速、长期缓解和遗传咨询有助于更好地管理和应对这种慢性、潜在致命的疾病。狼疮（2010）19,870-871。
