Phenotypic spectrum of 45,X/46,XY males with a ring Y chromosome and bilaterally descended testes

Objective To characterize the phenotypic spectrum of males with bilaterally descended testes and a 45,X/46,X,(r)Y karyotype. Design Retrospective review of patient records; cytogenetic and molecular analysis. Setting Tertiary medical center setting. Participant(s) Five males, two prepubertal and thr...

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Veröffentlicht in:	Fertility and sterility 2009-03, Vol.91 (3), p.791-797
Hauptverfasser:	Layman, Lawrence C., M.D, Tho, Sandra P.T., M.D, Clark, Andrew D., M.D., Ph.D, Kulharya, Anita, Ph.D, McDonough, Paul G., M.D
Format:	Artikel
Sprache:	eng
Schlagworte:	45,X/46,XY Adult azoospermia Azoospermia - genetics Azoospermia - physiopathology Biological and medical sciences Birth control Body Size - genetics Child Chromosomes, Human, Y Genotype Gonadal Dysgenesis, 46,XY - complications Gonadal Dysgenesis, 46,XY - genetics Gonadal Dysgenesis, 46,XY - physiopathology Gonadal Dysgenesis, Mixed - complications Gonadal Dysgenesis, Mixed - genetics Gonadal Dysgenesis, Mixed - physiopathology Gonadotropins - blood Gynecology. Andrology. Obstetrics Humans Internal Medicine Karyotyping Male Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance Medical sciences Mixed gonadal dysgenesis Obstetrics and Gynecology Oligospermia - genetics Oligospermia - physiopathology Phenotype Puberty Retrospective Studies Ring Chromosomes ring Y chromosome severe oligospermia Severity of Illness Index Spermatogenesis - genetics Sterility. Assisted procreation Testis - abnormalities Testis - metabolism Testis - physiopathology Testosterone - blood
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