Abstract

46,XY pure gonadal dysgenesis is a sex-reversal disorder, that is characterized by the presence of a female phenotype, with a normal to tall stature, primary amenorrhea and sexual infantilism. The internal genitalia are female with a uterus and vagina being present, however, there are bilateral dysgenetic gonads. In addition, neoplasia occurs in 20∼30% of patients who have gonadal dysgenesis and a Y chromosome. A 34 year old woman presented to our hospital with the chief complaint of primary amenorrhea. Physical examination revealed no secondary sexual characteristics and no somatic abnormality. Peripheral blood karyotype was 46,XY, and polymerase chain reaction (PCR) for the Sex determining Region Y (SRY) gene was positive. Sequencing analysis of the SRY gene revealed a single nucleotide polymorphism. A laparoscopic gonadectomy was performed to remove both gonads, and no tumor cells were observed. Estrogen replacement therapy was instituted.

• Keywords: Swyer syndrome, SRY gene, Gonadal dysgenesis;