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[XY gonadal dysgenesia (Swyer's syndrome); diagnosis and therapeutic consequences]. 1979

T von Holst, and H Junkermann, and B Runnebaum

UI MeSH Term Description Entries
D002369 Castration Surgical removal or artificial destruction of gonads. Gonadectomy,Castrations,Gonadectomies
D005260 Female Females
D006059 Gonadal Dysgenesis A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis. Gonadal Agenesis,Dysgenesis, Gonadal
D006061 Gonadal Dysgenesis, 46,XY Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination. Swyer Syndrome,46, XY Gonadal Dysgenesis,46, XY Gonadal Sex Reversal,46,XY Complete Gonadal Dysgenesis,Complete Gonadal Dysgenesis, 46, XY,Gonadal Dysgenesis, 46, XY,Pure Gonadal Dysgenesis 46,XY,Pure Gonadal Dysgenesis, 46, XY,Sex Reversal, Gonadal, 46, XY,XY Pure Gonadal Dysgenesis,Syndrome, Swyer
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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