Resumen

BUFALINO, Gesualdo; FABREGA, Ramona; GONZALEZ, Clamores  y  ROMERO, Grecia. Mosaicismo Turner 45XO/XY. Diagnóstico diferencial con disgenesia gonadal mixta. Rev Obstet Ginecol Venez [online]. 2007, vol.67, n.1, pp.61-66. ISSN 0048-7732.

We report the case of a 14 years and 4 months old patient, referred to our out clinic consultation foramenorrhea, short stature and Turner stigmas at physical examination. Peripheral blood and gonadal karyotype, as well as endocrinological profile and histopathological assessment of gonads were fundamental for establishing the differential diagnosis of mixed gonadal dysgenesis. Hormonal replacement therapy with equine conjugated estrogens was indicated with a good clinical evolution.

Palabras clave : Mixed gonadal dysgenesis; Turner syndrome; Hermaphroditism.