Introduction XX male syndrome (de la Chapelle syndrome) is a rare disorder of sex development linked to a 46,XX karyotype. Depending on the presence of the SRY gene, two variants of this disease are distinguished: SRY-positive and SRY-negative ones. The SRY (sex-determining region Y) gene...
46,XX male syndrome 46,XX testicular disorder of sex development (46,XX male syndrome) is found in 1:20,000 male births and is a raregeneticcause of infertility in phenotypic males.81The sex-determining region (SRY) is the key genetic component, normally residing on theY chromosome, that ...
XX male syndrome (1:20 000 live births) The XX male syndrome results from crossover between the X and Y chromosomes outside of the pseudoautosomal region during Meiosis I, which transfers the SRY (sex-determining region) of the Y chromosome to the X chromosome, such that testicular rather ...
The genetic origin of Klinefelter syndrome and its effect on spermatogenesis. Fertil Steril. 98, 253–260 (2012). 15. Vorona, E., Zitzmann, M., Gromoll, J., Schüring, A. N. & Nieschlag, E. Clinical, endocrinological, and epigenetic features of the 46, XX male syndrome, compared ...
46,XX雄性假两性畸形(46,XX male pseudohermaphroditism) 3. 46,XX睾丸发育不全(46,XX testicular dysgenesis) 4. 46,XX睾丸发育异常(46,XX testicular anomalies) 5. 46,XX睾丸发育障碍(46,XX testicular disorders) 6. 46,XX睾丸发育异常综合征(46,XX testicular dysgenesis syndrome) 7. 46,XX睾丸发育不良...
该病的英文表达方式还有:Nonsyndromic 46,xx Testicular Disorders/differences of Sex Development、46,xx Testicular Dsd、Nonsyndromic 46,xx Testicular Disorder/difference of Sex Development、46,xx Testicular Difference of Sex Development、46,xx Testicular Disorder of Sex Development、Xx Male Syndrome。患者体内...
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Background: Klinefelter syndrome (KS) (47,XXY) is the most common sex chromosomal disorder, and it is a frequent form of male hypogonadism and infertility... R.,Selice,A.,... - 《Journal of Endocrinological Investigation》 被引量: 60发表: 2010年 Klinefelter's syndrome in the male infertil...
XX sex chromosomes in a human male. First Case Acta Med Scan (1964) A. De la Chapelle The Y-chromosomal and autosomal testis determining genes Dev Suppl (1987) M. López et al. Clinical traits and molecular findings in 46 XX males Clin Genet (1995) M. Zitzmann Mechanisms of disease: ...
Differences in male vs. female immune responses are well-documented and have significant clinical implications. While the immunomodulatory effects of sex hormones are well established, the contributions of sex chromosome complement (XX vs. XY) and gut mi