Department of Medical Genetics, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.
Department of Urology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.
Andrologia. 2019 Jun;51(5):e13253. doi: 10.1111/and.13253. Epub 2019 Feb 11.
Klinefelter syndrome(KS), affecting 1 in 500-1,000 newborn males, is the most common sex chromosome aneuploidy among males with primary hypogonadism. Isochromosome Xq on the other hand is a rare variant of Klinefelter syndrome, accounting approximately 0.3% of all KS and associated with normal height and androgenisation compared to classical KS. Here, we present a case of isochromosome Xq variant of KS with similar clinical and cytogenetic findings with the few cases reported before.
A 25-year-old male patient referred to our clinic with complaint of infertility. He is the son of a consanguineous couple who are first cousins and there was no family history of reproductive difficulty. In physical examination synophrys, prominent ear and small testicles noted. The patient's spermiogram showed azoospermia and scrotal USG revealed testicular atrophy.
Karyotype analysis using G-banding resulted as 47,X,i(X)(q10),Y, and STR analysis showed no deletion in AZF and SRY loci of interest.
Although several isochromosome Xq variant of KS cases can be found in literature, it is our duty to emphasise the importance of karyotyping for patients with reproductive difficulty who may not have all features of classical Klinefelter syndrome.
克氏综合征（KS）影响每 500-1000 名新生男婴中的 1 名，是原发性性腺功能减退症男性中最常见的性染色体非整倍体。另一方面，X 染色体等臂是克氏综合征的一种罕见变异，约占所有 KS 的 0.3%，与经典 KS 相比，其身高和雄激素化正常。在这里，我们报告了一例 X 染色体等臂变异型 KS 的病例，其临床表现和细胞遗传学发现与之前报道的少数病例相似。
一名 25 岁男性患者因不育问题就诊于我院。他是一对表亲的儿子，家族中没有生殖困难的病史。体格检查发现患者存在眉弓连眉、耳朵突出和睾丸小。患者的精液分析显示无精子症，阴囊超声显示睾丸萎缩。
G 显带核型分析结果为 47，X，i（X）（q10），Y，STR 分析显示 AZF 和 SRY 感兴趣区域无缺失。
尽管文献中可以找到几例 X 染色体等臂变异型 KS 病例，但我们有责任强调对可能不具有经典克氏综合征所有特征的生殖困难患者进行核型分析的重要性。
