Amenorrea primaria y disgerminoma en una paciente con disgenesia gonadal pura, reporte de caso

La amenorrea primaria representa un reto diagnóstico para el médico general y especialista, dado que el espectro etiológico es amplio y se requiere de un adecuado enfoque para garantizar una correcta orientación terapéutica.
Se presenta el caso de una paciente de 18 años de edad con amenorrea primaria, quien a los 15 años presentó cuadro de abdomen agudo por disgerminoma ovárico. Cariotipo reportado como 46XY, configuró el diagnóstico de disgenesia gonadal pura o síndrome de Swyer.
El presente reporte de caso ilustra los principales hallazgos de la disgenesia gonadal pura y ejemplifica el abordaje secuencial diagnóstico de una paciente con amenorrea primaria.

Abstract
Primary amenorrhea is a diagnostic challenge for Specialists and Primary Care Physicians, for proper treatment is required to perform a clinical approach and rule out differential diagnoses.

This is a case report of a 18 years old patient with primary amenorrhea, who at age of 15 years old presented acute abdomen for ovarian dysgerminoma. Karyotype reported 46XY, and pure gonadal dysgenesis (Swyer syndrome) was diagnosed.
This case report illustrates the main clinical features of pure gonadal dysgenesis and the primary amenorrhea›s clinical approach.

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