Hypoplastic uterus and clitoris enlargement in Swyer syndrome

J Pediatr Adolesc Gynecol. 2010 Feb;23(1):e43-5. doi: 10.1016/j.jpag.2009.03.004. Epub 2009 Jul 29.


Background: Swyer syndrome is associated with absent testicular differentiation in a 46XY phenotypic female.

Case: A 17-year-old female presented with primary amenorrhea and 46XY karyotype. Breast and pubic hair development were Tanner 2, and clitoral enlargement was noted. Magnetic resonance imaging revealed a hypoplastic uterus and 2 "normal ovaries." Serum follicle-stimulating hormone and luteinizing hormone were elevated. Testosterone and androstenedione were in the female range. Dehydroepiandrosterone sulfate was slightly elevated. Laparoscopic bilateral gonadectomy was performed. Pathology reports showed bilateral microscopic benign hilar cell tumors.

Summary and conclusion: The diagnosis was a real puzzle for the clinicians because of the association of clitoral hypertrophy without hirsutism, female internal genitalia, and a 46XY karyotype. Clitoral enlargement can be explained by transient androgen secretion by the hilar cells found in the resected gonads.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Clitoris / abnormalities*
  • Contraceptives, Oral / therapeutic use
  • Cysts / diagnostic imaging*
  • Female
  • Gonadal Dysgenesis, 46,XY / diagnosis*
  • Gonadal Dysgenesis, 46,XY / drug therapy
  • Gonadal Dysgenesis, 46,XY / pathology
  • Gonads / diagnostic imaging
  • Gonads / pathology
  • Humans
  • Leydig Cells / pathology
  • Male
  • Ultrasonography
  • Uterus / abnormalities*


  • Contraceptives, Oral