J Korean Soc Radiol.  2017 Mar;76(3):229-232. 10.3348/jksr.2017.76.3.229.

Complete Androgen Insensitivity Syndrome with Paratesticular Leiomyoma: A Case Report

• Lee JH
• Oh HW
• Lee MJ
• Lim DH

• KMID: 2371691
• DOI: http://doi.org/10.3348/jksr.2017.76.3.229

Abstract

Complete androgen insensitivity syndrome (AIS) is a rare, X-linked recessive disorder. Patients with AIS may develop primary amenorrhea due to androgen receptor resistance, resulting in a normal female phenotype and male (XY) karyotype. We report a case of a 30-year-old woman who was diagnosed with complete AIS. Ultrasonography and magnetic resonance imaging revealed bilateral inguinal cryptorchidism and no ovaries and uterus. After gonadectomy, the inguinal mass was confirmed as testicular atrophy with hamartomatous proliferation of Leydig cells and paratesticular leiomyoma. Although these tumors have been reported in association with AIS, this is the first case of paratesticular leiomyoma with hamartomatous proliferation of Leydig cells in atrophic testes being reported in Korea.

MeSH Terms

Adult
Amenorrhea
Androgen-Insensitivity Syndrome*
Atrophy
Cryptorchidism
Female
Humans
Karyotype
Korea
Leiomyoma*
Leydig Cells
Magnetic Resonance Imaging
Male
Ovary
Phenotype
Receptors, Androgen
Testis
Ultrasonography
Uterus
Receptors, Androgen

Figure

• 

  Fig. 1 Cryptorchidism and paratesticular leiomyoma with androgen insensitivity syndrome in a 30-year-old woman. A. Transabdominal US reveals a heterogeneous hypoechoic oval mass with an abutting cystic component in both inguinal regions. B. There is scant vascularity within the mass on Doppler US. C. T2-weighted sagittal MR image showing a blind-ended vagina (white arrow) measuring 5 cm in length, without the uterus and ovaries. D-F. T2-weighted axial (D) and coronal images (E, F) demonstrate a right testis (hollow arrow) in the superficial inguinal ring and a left testis in the deep inguinal ring. An isointense T2 signal tubular structure close to the testes (white arrow) is noted. Multiloculated cysts (asterisk) are visible adjacent to the lower pole of the testes. G. Microscopic finding of the mass, showing the presence of testes with atrophic seminiferous tubules and hamartomatous proliferation of Leydig cells (hematoxylin and eosin statin, × 200). H. Immunohistochemical staining reveals actin-positive smooth muscle fibers within the tubular structure (left side) adjoining the testes (right side) (× 200). US = ultrasonography

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