46XX男性不育患者的一种可能病因。
A possible etiology of the infertile 46XX male subject.
作者信息
Butler M G, Walzak M P, Sanger W G, Todd C T
出版信息
J Urol. 1983 Jul;130(1):154-6. doi: 10.1016/s0022-5347(17)51010-1.
Abstract
We report on an infertile male patient with the predominant 46XX female karyotype. A testicular biopsy revealed widely separated testicular tubules, absence of sperm formation and large numbers of Leydig cells. Chromosome studies, including measurements of the X chromosomes, showed a significant difference between the lengths of the short arm of the 2 X chromosomes. This information lends support for an X-Y chromosome interchange as the etiology of this syndrome. The clinical features of this rare syndrome and other theories of etiology of XX male subjects are discussed.
摘要
我们报告了一名主要核型为46XX的不育男性患者。睾丸活检显示睾丸小管广泛分离，无精子形成，且有大量睾丸间质细胞。染色体研究，包括对X染色体的测量，显示两条X染色体短臂长度存在显著差异。这一信息支持了X-Y染色体互换是该综合征病因的观点。本文讨论了这种罕见综合征的临床特征以及XX男性患者病因的其他理论。
相似文献
1
A possible etiology of the infertile 46XX male subject.46XX男性不育患者的一种可能病因。
J Urol. 1983 Jul;130(1):154-6. doi: 10.1016/s0022-5347(17)51010-1.
2
[A case of 46XX male].[一例46XX男性病例]
Hinyokika Kiyo. 1993 Jan;39(1):93-5.
3
Infertility in an XX male.一名XX男性的不育症
J Urol. 1977 Oct;118(4):690-1. doi: 10.1016/s0022-5347(17)58160-4.
4
DNA hybridization study using Y-specific probes in an XX-male.在一名XX男性中使用Y特异性探针进行DNA杂交研究。
Andrologia. 1991 May-Jun;23(3):237-9. doi: 10.1111/j.1439-0272.1991.tb02547.x.
5
Sex reversal syndrome (XX male).性反转综合征（XX男性）。
Urology. 1990 Oct;36(4):322-4. doi: 10.1016/0090-4295(90)80238-i.
6
The role of the sex-determining region Y gene in the etiology of 46,XX maleness.Y染色体性别决定区基因在46,XX男性化病因学中的作用。
J Clin Endocrinol Metab. 1993 Mar;76(3):690-5. doi: 10.1210/jcem.76.3.8383144.
7
Primary infertility in a phenotypic male with 46XX chromosomal constitution.染色体组成为46XX的表型男性原发性不孕。
Postgrad Med J. 1993 Apr;69(810):315-7. doi: 10.1136/pgmj.69.810.315.
8
Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male.Y染色体特异性探针鉴定出一名不育男性45,X/46,X,del(Y)(pter----q11.1:)核型中的断点。
J Med Genet. 1989 May;26(5):330-3. doi: 10.1136/jmg.26.5.330.
9
[Male infertility with chromosomal abnormalities. II. XX-male syndrome].[染色体异常所致男性不育。II. XX男性综合征]
Hinyokika Kiyo. 1987 Feb;33(2):193-203.
10
Meiotic behaviour and sperm aneuploidy in an infertile man with a mosaic 45,X/46,XY karyotype.一名具有45,X/46,XY嵌合核型的不育男性的减数分裂行为和精子非整倍体情况
Reprod Biomed Online. 2015 Dec;31(6):783-9. doi: 10.1016/j.rbmo.2015.08.016. Epub 2015 Sep 9.
引用本文的文献
1
A 46,XX Karyotype in Men with Infertility: Two New Cases and Review of the Literature.46,XX核型的男性不育症：两例新病例及文献综述
J Hum Reprod Sci. 2022 Jul-Sep;15(3):307-317. doi: 10.4103/jhrs.jhrs_100_22. Epub 2022 Sep 30.
2
46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review.46,XX 睾丸性发育障碍（DSD）：病例报告和系统评价。
Medicina (Kaunas). 2019 Jul 12;55(7):371. doi: 10.3390/medicina55070371.
3
46 XX karyotype during male fertility evaluation; case series and literature review.男性生育力评估中的46 XX核型；病例系列及文献综述
Asian J Androl. 2017 Mar-Apr;19(2):168-172. doi: 10.4103/1008-682X.181224.
本文引用的文献
1
XX SEX CHROMOSOMES IN A HUMAN MALE. FIRST CASE.人类男性中的XX性染色体。首例。
Acta Med Scand. 1964;175:SUPPL 412:25-8. doi: 10.1111/j.0954-6820.1964.tb04630.x.
2
Quantitative genetics of finger-print patterns.指纹图案的数量遗传学
Br Med Bull. 1961 Sep;17:247-50. doi: 10.1093/oxfordjournals.bmb.a069917.
3
Sex chromatin pattern in seminiferous tubule dysgenesis and other testicular disorders: relationship to true hermaphrodism and to Klinefelter's syndrome, with a review of gonadal ontogenesis.
J Clin Endocrinol Metab. 1957 Jun;17(6):703-36. doi: 10.1210/jcem-17-6-703.
4
Additional evidence for X-Y chromosome interchange in a 46,XX male.46,XX男性中X-Y染色体互换的更多证据。
Nebr Med J. 1980 Dec;65(12):330-3.
5
Significance of sex chromosome derived heterochromatin in mammals.
Nature. 1968 Aug 31;219(5157):910-4. doi: 10.1038/219910a0.
6
Genetic intersexuality in goats.山羊的遗传性雌雄间性
J Reprod Fertil Suppl. 1969 May;7:Suppl 7:25-51.
7
Sex-reversed mice: XX and XO males.性反转小鼠：XX和XO雄性小鼠。
Cytogenetics. 1971;10(5):318-37. doi: 10.1159/000130151.
8
Analytic review: nature and origin of males with XX sex chromosomes.分析性综述：具有XX性染色体男性的本质与起源
Am J Hum Genet. 1972 Jan;24(1):71-105.
9
Definitive evidence for the short arm of the Y chromosome associating with the X chromosome during miosis in the human male.在人类男性减数分裂过程中，Y染色体短臂与X染色体相关联的确凿证据。
Nature. 1970 Jun 6;226(5249):959-61. doi: 10.1038/226959a0.
10
Finger-print pattern and the sex chromosomes.
Lancet. 1967 Feb 11;1(7485):298-300. doi: 10.1016/s0140-6736(67)91237-8.
Zotero 插件