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 genitalia and unilateral amelia and unilateral peromelia of the upper limbs. The external genitalia had essentially a female configuration with labia majora, large clitoris, and narrow vaginal opening. Gonadal tissue was not palpable on either side. The levels of 17-OH progesterone dehydroepiandrosterone sulfate (DHEA-S), androstenedione and luteinizing hormone (LH) were normal, but the level of follicle stimulating hormone (FSH) was elevated minimally. Abdominal ultrasonography (USG) was normal. On pelvic USG, neither uterus nor ovaries were seen. Genitography showed a blind vagina. Gonads, Müllerian and/or Wolffian structures were not observed at laparotomy. Clitoral recession and cut-back vaginoplasty were performed. The occurrence of these findings suggests embryonic testicular regression syndrome with bilateral transverse defect of the upper limbs. The case has been presented because the pattern of the birth defects, including both ambiguous genitalia and unilateral amelia on one side of the upper limbs and unilateral peromelia in the other, have not been described previously.