Resumo

MEJIAS SANCHEZ, Yoerquis; DUANY MACHADO, Orgel José  e  TABOADA LUGO, Noel. Disorders of sexual differentiation: a case presentation of ambiguous genitalia and literature review on this topic. Rev Cubana Pediatr [online]. 2007, vol.79, n.3. ISSN 0034-7531.

Sexual differentiation disorders constitute a group of complex syndromes and entities. The term intersexual states makes reference to those newborns that present with ambiguos genitalia, that is, without any clear evidence of defined sex. Intersexuality may be classified as masculine and femenine pseudohermaphroditism and true hermaphroditism, which is caused by incomplete sexual differentiation in the male or virilization in the female. This disorder is relatively rare in our context, though knowledge increases more and more about it thanks to the development of molecular biology and the discovered involvement of genes in the normal sexual differentiation process. This article presented the case of a newborn whose dysmorphological exam at birth indicated positive findings in external genitalia such as micropenis and bifid scrotum. Labioscrotal fusion was upset with separated folds resembling labia majoris and a structure that seemed to be vaginal introitus. The ultrasonographic study eliminated the possibility of uterus and ovaria and showed the presence of testis in the inguinal canal. Sexual chromatin in interphase cells of the oral mucosa indicated 0% Barr corps and the chromosomal study showed normal male cariotype (46, XY), so this case was considered as male pseudohermaphroditism. Sexual differentiation disorders were reviewed.

Palavras-chave : sexual differentiation; disorders; ambiguos genitalia; pseudohermaphroditism; hermaphroditism; mixed gonadal dysgenesia.

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