XX Male Syndrome / 대한비뇨기과학회지

ABSTRACT

A 30-year-old man with male phenotype visited our Infertility Clinic because of infertile marital life for 5 years. On physical examination, height was 162cm and body weight 52kg. Size of testis was 5 ml and that of penis, 6cm in length and 6cm in circumference. Distribution of pubic hair was sporadic and inverted triangle shape. No gynecomastia was obsessed. urogenital sinus or Mullerian duct system was not found in retrograde cystourethrography. Hormonal assay revealed that plasma FSH (46.6 IU/L) and LH (48.4 IU/L) were found to be elevated but testosterone (5.35 ng/ml) was within normal range. Prolactin level (21.1 ng/ml) was also normal. Repeated semen analyses showed that no sperm in 1.5-2.0 ml of ejaculates. Histology of testis revealed that hyalinization of seminiferous tubules and Leydig cell hyperplasia. Chromosomal analysis with peripheral blood revealed that 46XX by repeated analyses. This is first case report of XX male syndrome or sex reversal syndrome from Korea.