A CASE OF AMBIGUOUS GENITALIA WITH UNILATERAL AMELIA AND UNILATERAL PEROMELIA OF THE UPPER LIMBS

A 7-year-old patient is reported with a 46,XY karyotype, ambiguous gen italia and unilateral amelia and unilateral peromelia of the upper Lim bs. The external genitalia had essentially a female configuration with labia majora, large clitoris, and narrow vaginal opening. Gonadal tis sue was not palpable on either side. The levels of 17-OH progesterone dehydroepiandrosterone sulfate (DHEA-S), androstenedione and luteinizi ng hormone (LH) were normal, but the level of follicle stimulating hor mone (FSH) was elevated minimally. Abdominal ultrasonography (USG) was normal. On pelvic USG, neither uterus nor ovaries were seen. Genitogr aphy showed a blind vagina. Gonads, Mullerian and/or Wolffian structur es were not observed at laparotomy. Clitoral recession and cut-back va ginoplasty were performed. The occurrence of these findings suggests e mbryonic testicular regression syndrome with bilateral transverse defe ct of the upper limbs. The case has been presented because the pattern of the birth defects, including both ambiguous genitalia and unilater al amelia on one side of the upper limbs and unilateral peromelia on t he other, have not been described previously.