Related Experiment Video
Updated: Jun 21, 2026

Laparoscopic Oocyte Retrieval and Cryopreservation during Vaginoplasty for Treatment of Mayer-Rokitansky-Kuster-Hauser Syndrome
Published on: May 10, 2022
Hypoplastic uterus and clitoris enlargement in Swyer syndrome
Valérie Hétu1, Evelyne Caron, Diane Francoeur
1Department of Adolescent and Pediatric Gynecology, Sainte-Justine University Hospital Center, Montréal, Québec, Canada. valerie_hetu@hotmail.com
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.
Related Concept Videos
External Female Genitals
Cirrhosis I: Introduction
Development of the Sexual Organs in the Embryo and Fetus
Near the gonadal ridges, two duct systems are present: the mesonephric ducts (Wolffian ducts) and paramesonephric ducts (Müllerian ducts). These ducts form the basis for the male...
Uterus and Cervix
The uterus is securely anchored within the pelvic cavity by paired broad ligaments on either side. It is further stabilized by three pairs of...
Histology of the Uterus
The endometrium is the...
Uterine Tubes

