Wu Yan-Hua, Sun Ke-Na, Bao Hui, Chen Ying-Jian
Department of Laboratory Medicine, The 960 Hospital of The PLA Joint Logistics Support Force, Jinan 250031, Shandong Province, China.
Department of Medical Laboratory, Weifang Medical University, Weifang 261053, Shandong Province, China.
World J Clin Cases. 2020 Dec 26;8(24):6380-6388. doi: 10.12998/wjcc.v8.i24.6380.
45,X/46,XY mosaicism is a rare chromosomal abnormality with a wide range of phenotypes in both males and females, from normal individuals with different degrees of genital ambiguity to those who show signs of Turner's syndrome. More rarely, cases of 45,X/46,XY mosaicism with a normal-appearing male phenotype are not found until a chromosome test is performed to investigate the cause of male infertility.
In this study, a 29-year-old male patient with complete azoospermia is reported. Chromosomal analyses of his lymphocytes revealed the karyotype 45,X[93%]/46,X,+mar(Y)[7%]. In addition, Y chromosome-specific markers, such as , , a, b and c, were not observed in his blood DNA according to multiplex polymerase chain reaction test. A literature review identified several 45,X/46,XY cases with a normal-appearing male phenotype, most of whom were diagnosed during infertility investigation. However, the present case is the first -negative 45,X/46,XY male case diagnosed during a premarital medical examination.
This finding further suggests that sex determination is a complex process regulated by multiple genetic and environmental factors.
45,X/46,XY嵌合体是一种罕见的染色体异常，在男性和女性中均有广泛的表型，从具有不同程度生殖器模糊的正常个体到表现出特纳综合征体征的个体。更罕见的是，直到进行染色体检测以调查男性不育的原因时，才发现具有正常男性表型的45,X/46,XY嵌合体病例。
本研究报告了一名29岁的无精子症男性患者。对其淋巴细胞进行染色体分析显示核型为45,X[93%]/46,X,+mar(Y)[7%]。此外，根据多重聚合酶链反应检测，在其血液DNA中未观察到Y染色体特异性标记，如、、a、b和c。文献综述发现了几例具有正常男性表型的45,X/46,XY病例，其中大多数是在不育症调查期间确诊的。然而，本病例是首例在婚前医学检查期间确诊的45,X/46,XY男性 -阴性病例。
这一发现进一步表明性别决定是一个受多种遗传和环境因素调控的复杂过程。
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