Resumen

PIZZI, Rita et al. Trastornos de diferenciación sexual. Rev Obstet Ginecol Venez [online]. 2016, vol.76, n.2, pp.133-142. ISSN 0048-7732.

The aim of this paper is to present the clinical, cytogenetic and histopathological findings in adult patients who consulted the Gynecological Endocrinology Unit of the University Hospital of Caracas with Disorders of sexual development. Four clinical cases reported: Two with Disorder of sexual development 46, XY due defect in androgen action previously called partial androgen insensitivity, one patient with disorders of sexual development 46, XX and another with disorder of sexual development 46, XY ovotesticular without gonadoblastoma by Frasier syndrome. It is important an early diagnosis and treatment to define the sex for the individual’s future. Conclusion: Despite the progress made over the last 20 years, some cases are still without etiologic diagnosis, either through lack of molecular study or yet unknown genes. Its diagnostic and therapeutic approach is complex, requiring a team of gynecologists, endocrinologists, psychiatrists, urologists, plastic surgeons.

Palabras clave : Disorders of sexual development; Primary amenorrhea; Ambiguous genitalia; Androgen insensitivity syndrome.

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