A patient with a 46,XX chromosome constitution showed the following main characteristics: lack of secondary sexual development, female external genitalia with absence of vagina, no gonadal structures, and complete lack of internal genitalia. This is a variant of the gonadal agenesis syndrome so far only described in association with and XY chromosome component. Endrocinology demonstrated that in the absence of gonadal feedback the pituitary responsiveness to synthetic luteinizing hormone-releasing hormone was increased.
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