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  • Title: 46,XX gonadal absence: a variant of the XX pure gonadal dysgenesis?
    Author: Medina M, Kofman-Alfaro S, Pérez-Palacios G.
    Journal: Acta Endocrinol (Copenh); 1982 Apr; 99(4):585-7. PubMed ID: 6803492.
    Abstract:
    Two unrelated 46,XX individuals with female phenotype and sexual infantilism were studied. Endocrine findings showed anoestrogenism and hypergonadotrophism with a normal pituitary response to LRH. Laparotomy disclosed ovarian absence with normal Mullerian derivatives and no gonadal streaks were found within the true pelvis or inguinal canals. This condition represents the 46,XX counterpart of the 46,XY gonadal absence syndrome. Whether the XX agonadism reported here is a different and distinctive entity or is a variant of the XX pure gonadal dysgenesis syndrome can not be ascertained at present.
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