Summary
In a girl with primary amenorrhea, born from a consanguineous marriage, bilateral absence of gonads was established histologically. Cytogenetic studies demonstrated a 46,XY karyotype, and H-Y antigen determination was positive. In contrast with most reported cases of XY females with gonadal agenesis, normal development of female internal and external genitalia was present. Clinical and endocrinological features are reported, and the possible basis for the malformation is discussed.
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This work was supported by CNR, Centro di Studio Immunogenetica ed istocompatibilità, Torino, Italy
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De Marchi, M., Campagnoli, C., Ghiringhello, B. et al. Gonadal agenesis in a phenotypically normal female with positive H-Y antigen. Hum Genet 56, 417–419 (1981). https://doi.org/10.1007/BF00274705
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DOI: https://doi.org/10.1007/BF00274705