SWYER SYNDROME
\swˈa͡ɪə sˈɪndɹə͡ʊm], \swˈaɪə sˈɪndɹəʊm], \s_w_ˈaɪ_ə s_ˈɪ_n_d_ɹ_əʊ_m]\
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This type of gonadal defect is characterized by a female phenotype, normal to tall stature, bilateral streak or dysgenetic gonads, and a 46,XY karyotype. This XY gonadal dysgenesis is a heterogenous condition with variant forms resulting from a structural abnormality on Y chromosome, a mutation in SRY gene or a mutation in autosomal genes. The syndrome is sometimes called "pure gonadal dysgenesis," but this designation may also refer to gonadal dysgenesis with a 46,XX karyotype (GONADAL DYSGENESIS, 46,XX).
By DataStellar Co., Ltd
