Resumo

VALDES ALONSO, María del Carmen; LANTIGUA CRUZ, Aracelis  e  BASAIN VALDES, José María. Mixed gonadal dysgenesis as a form of presentation of sex differentiation disorder of chromosomal origin. Rev Cubana Pediatr [online]. 2015, vol.87, n.4, pp. 515-521. ISSN 1561-3119.

Sex differentiation is a genetically determined and controlled process that may be altered by various types of genetic mutations or by the effect of hormones or other environmental disruptors acting upon the embryo. The result is the formation of external genitalia that does not match with the genetic sex and the internal genitalia. Mixed gonadal dysgenesis is classified into the sexual differentiation disorders of chromosomal cause. Here is a one-year old child, who was seen at “Juan Manuel Marquez” pediatric hospital since he presented with atypical external genitalia. The diagnosis was mixed gonadal dysgenesis, based on supplementary tests like gynecological echography, hormone studies and karyotype. The initial treatment was surgical in two surgical times, and the hormonal follow-up lasted till puberty (14 years) when the hormone replacement therapy started according to the indications for the patient's age.

Palavras-chave : mixed gonadal dysgenesis; sex differentiation disorders.

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