Resumen

LANDAETA, José; VALDIVIESO, Ricardo; RINCON, María E  y  DURAN, Indira. Mixed gonad dysgenesis. Salus [online]. 2015, vol.19, n.1, pp.34-38. ISSN 1316-7138.

The Mixed Gonadal Dysgenesis (MGD) is a disorder of sex development characterized for presence of immature or dysgenetic testicular tissue and contralateral streak gonad frequently associated to chromosome mosaic type 45X/46XY and genital ambiguity. This condition represents the second cause of ambiguous genitalia in neonates after congenital adrenal hyperplasia; characterized by short stature, turner`s stigmata in infancy and primary amenorrhea in adolescence. It should be diagnosed early due to risk of malignant transformation of gonads by the presence of Y chromosome in cell lines of the affected patiens. We report the case of a female infant of 11 motnhs old referred to gynecological pediatric consult of the Instituto Docente de Urologia in Valencia, Carabobo showing genital ambiguity since birth. Characteristics from the physical examination, clinical and therapeutic approach, with emphasis on the laboratory diagnostic methods, laparoscopy finding and gonadal biopsy are described. The laparoscopy evaluation revealed central uterus, right testicle and left gonadal streak. The gonadal biopsy reported the presence of prepuberal seminiferous tubules and the gonadal karyotype (FISH method) reported 45X/46XY; subsequently deciding bilateral gonadectomy and clitoroplasty. In conclusion, MGD represents a social and medical emergency due to the presence of ambiguous genitalia and the risk of future malignant transformation of the gonads. The clinical and therapeutic management should always be interdisciplinary.

Palabras clave : Mixed gonadal dysgenesis; genital ambiguity; gonadal karyotype; FISH method; streak gonad; gonadal biopsy.

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