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dysgenéza gonadálna, 46,XX

  1. Subject h.dysgenéza gonadálna, 46,XX
    Subject h.Gonadal Dysgenesis, 46,XX
    Entry termsdysgenéza gonád, karyotyp 46,XX
    dysgenéza gonád, 46,XX
    dysgenéza gonadálna, karyotyp 46,XX
    dysgenéza gonadálna, XX typ
    gonadálna dysgenéza typu 46,XX, čistá forma
    dysgenéza gonád typu 46,XX, čistá forma
    Scope note in EnglishThe 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.
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