A Case of Swyer Syndrome Diagnosed in Infant / 대한주산의학회잡지

ABSTRACT

Swyer syndrome is characterized by a female phenotype, normal to tall stature, sexual infantilism with primary amenorrhea and 46,XY karyotype. The internal genitalia are female with uterus and full vagina, but have no ovaries or testis. Swyer syndrome is often diagnosed when young adults are evaluated for delayed puberty, as menstruation dose not occur naturally. We experienced a case of Swyer syndrome diagnosed incidentally in course of evaluating intrauterine growth retardation and delayed growth in infant. So, we report a case of Swyer syndrome with a brief review of literatures.