并非所有男性都具有46，XY核型：一例罕见病例报告。
All males do not have 46 xy karyotype: A rare case report.
作者信息
Agrawala Ritesh Kumar, Choudhury Arun Kumar, Mohanty Binoy Kumar, Baliarsinha Anoj Kumar
机构信息
Department of Endocrinology, Sri Ram Chandra Bhanj Medical College and Hospital, Cuttack, Odisha, India.
出版信息
Indian J Endocrinol Metab. 2013 Oct;17(Suppl 1):S271-3. doi: 10.4103/2230-8210.119603.
The sex of an embryo is determined by genetic sex due to presence or absence of Y chromosome, but it may not be true in all. We hereby report an interesting case of a phenotypic male carrying a female karyotype (46 XX). A 26-year-old male presented with bilateral gynecomastia, poor development of secondary sexual characters and azospermia. On evaluation patient had hypergonadotrophic hypogonadism and chromosomal analysis revealed 46 XX karyotype. The ultrasound revealed no Mullerian structures. Fluorescent in situ hybridization (FISH) showed sex determining region of Y chromosome (SRY) gene locus on X chromosome.
胚胎的性别由遗传性别决定，取决于Y染色体的有无，但并非在所有情况下都是如此。我们在此报告一例有趣的病例，一名表型为男性但核型为女性（46,XX）的患者。一名26岁男性因双侧乳腺增生、第二性征发育不良和无精子症前来就诊。经评估，患者患有高促性腺激素性性腺功能减退，染色体分析显示核型为46,XX。超声检查未发现苗勒管结构。荧光原位杂交（FISH）显示Y染色体性别决定区（SRY）基因座位于X染色体上。
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