Abiri Maryam, Hassanlou Maryam, Narimani Nima, Zamani Marzieh, Moeini Zahra
Department of Medical Genetics, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Shahid Akbarabadi Clinical Research Development Unit, Iran University of Medical Sciences, Tehran, Iran.
J Family Reprod Health. 2021 Dec;15(4):271-274. doi: 10.18502/jfrh.v15i4.7896.
45, X is a very rare condition that usually results from Y/autosomal translocations or insertions. Here we present an infertile azoospermic man who had 45, X t(Yp;15) karyotype and deletion of AZF (azoospermia factor) gene region. A 35-year-old infertile azoospermic man with a typical male appearance came for infertility genetic counseling. He was infertile for more than ten years and had short height. High-resolution of metaphase chromosomes of 50 peripheral white blood cells were analyzed for karyotyping. Fluorescence in situ hybridization (FISH) analysis and Polymerase chain reaction (PCR) were done for SRY and AZF gene localization. Karyotyping and FISH analysis revealed 45, X t(Yp;15) karyotype and no mosaicism. More investigation on the Y chromosome revealed no deletion in the SRY region, but AZF a/b/c were deleted. It was revealed that Yp's subtelomeric region but not Yq was translocated to chromosome 15. This study shows that despite the lack of a complete Y chromosome in this person, the occurrence of secondary male traits is a result of the short arm translocation of the Y chromosome, which contains the (ex-determining region Y) SRY gene. Infertility is also due to the Y chromosomes long arm's deletion containing the AZF gene region.
45,X是一种非常罕见的情况，通常由Y/常染色体易位或插入导致。在此，我们报告一名不育的无精子症男性，其核型为45,X t(Yp;15)，且存在无精子症因子（AZF）基因区域的缺失。一名35岁外貌典型男性的不育无精子症患者前来进行不育症遗传咨询。他不育超过十年，身材矮小。对50个外周血白细胞的中期染色体进行高分辨率分析以进行核型分析。采用荧光原位杂交（FISH）分析和聚合酶链反应（PCR）进行SRY和AZF基因定位。核型分析和FISH分析显示为45,X t(Yp;15)核型，无嵌合体现象。对Y染色体的进一步研究表明，SRY区域无缺失，但AZF a/b/c区域缺失。结果显示Yp的亚端粒区域而非Yq易位至15号染色体。本研究表明，尽管该个体缺乏完整的Y染色体，但男性第二性征的出现是由于Y染色体短臂易位，该短臂包含（性别决定区域Y）SRY基因。不育也是由于Y染色体长臂缺失了包含AZF基因区域所致。
