Demirhan O, Pazarbaşi A, Tanriverdi N, Aridoğan A, Karahan D
Department of Medical Biology, University of Cukurova, Adana, Turkey.
Genet Couns. 2009;20(3):235-42.
We describe a male with a variant Klinefelter syndrome (KS), and trisomy Xq resulting from an isochromosome Xq [47,Xi(Xq)Y]. He had many characteristics of classical KS: bilateral atrophic testes and microcalcifications, normal masculinization, azoospermia, hypergonadotropic hypogonadism, elevated FSH and LH, normal intelligence and normal androgenization, but his stature was not increased. Ultrasonographic evaluation also revealed parenchymal alterations secondary to previous epididymo-orchitis. After initial evaluation the patient underwent incisional biopsy of testes which showed tubular hyalinisation, Leydig cell hyperplasia and Certoli cell syndrome. The i(Xq) was found in all cells analyzed. These findings indicate that extra copies of the long arm of X have phenotypic expression, even though activated only in early development. In conclusion, review of literature on 20 adult patients supports the view that the presence of an isochromosome Xq in KS has a favorable prognosis in terms of normal mental development and normal stature.
我们描述了一名患有变异型克兰费尔特综合征（KS）的男性，其因Xq等臂染色体导致Xq三体[47,Xi(Xq)Y]。他具有经典KS的许多特征：双侧睾丸萎缩和微钙化、男性化正常、无精子症、高促性腺激素性性腺功能减退、促卵泡生成素（FSH）和促黄体生成素（LH）升高、智力正常且雄激素化正常，但他的身高并未增加。超声检查还发现了既往附睾炎继发的实质改变。初步评估后，患者接受了睾丸切开活检，结果显示小管玻璃样变、睾丸间质细胞增生和支持细胞综合征。在所分析的所有细胞中均发现了i(Xq)。这些发现表明，即使仅在早期发育中被激活，X染色体长臂的额外拷贝也具有表型表达。总之，对20例成年患者的文献回顾支持这样一种观点，即KS中Xq等臂染色体的存在在正常智力发育和正常身高方面具有良好的预后。
