Magnetic resonance imaging features of complete androgen insensitivity syndrome in comparison to Mayer-Rokitansky-Küster-Hauser syndrome

Akihiro Nakamata; Mitsuru Matsuki; Yuko Otake; Yuki Himoto; Yo Kaneko; Moto Nakaya; Naohiro Sudo; Tomohiro Kikuchi; Yuriko Watanabe; Ryoma Kobayashi; Sota Masuoka; Naoki Kunitomo; Hiroyuki Fujii; Kohei Hamamoto; Harushi Mori

doi:10.1007/s00261-024-04282-z

Magnetic resonance imaging features of complete androgen insensitivity syndrome in comparison to Mayer-Rokitansky-Küster-Hauser syndrome

Abdom Radiol (NY). 2024 Apr 11. doi: 10.1007/s00261-024-04282-z. Online ahead of print.

Authors

Affiliations

¹ Department of Radiology, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke, Tochigi, 329-0498, Japan. msa462u@yahoo.co.jp.
² Department of Pediatric Radiology, Jichi Children's Medical Center, Tochigi, Japan.
³ Department of Radiology, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke, Tochigi, 329-0498, Japan.
⁴ Department of Diagnostic Radiology and Nuclear Medicine, Kyoto University Hospital, Kyoto, Japan.
⁵ Department of Radiology, Gifu University School of Medicine, Gifu, Japan.
⁶ Department of Radiology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
⁷ Department of Radiology, Nihon University School of Medicine, Tokyo, Japan.

PMID: 38602521
DOI: 10.1007/s00261-024-04282-z

Abstract

Purpose: Complete androgen insensitivity syndrome (CAIS) and Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) share common clinical features such as female phenotype, vaginal hypoplasia, and primary amenorrhea. Magnetic resonance imaging (MRI) is performed to investigate the cause of primary amenorrhea. However, the MRI features are also similar in both disorders. They are ultimately diagnosed by chromosome testing, but there is a possibility of misdiagnosis if chromosome testing is not performed. This study aimed to identify MRI features that are useful for differentiating CAIS from MRKHS.

Method: This multicenter retrospective study included 12 patients with CAIS and 19 patients with MRKHS. Three radiologists blindly evaluated the following features: (1) detection of vagina, (2) detection of nodular and cystic structures in the lateral pelvis; undescended testicles and paratesticular cysts in CAIS and rudimentary uteri and ovaries in MRKHS, (3) their location, (4) number of cysts in the cystic structures, and (5) signal intensity on diffusion-weighted images (DWI) and apparent diffusion coefficient (ADC) values of the nodular structures. Statistical comparisons were performed using Mann-Whitney U and Fisher's exact tests.

Results: Compared with MRKHS, the CAIS group showed significantly detectable vagina, more ventrally located nodular and cystic structures, fewer cysts within the cystic structures, and nodular structures with higher signal intensity on DWI and lower ADC values.

Conclusions: MRI features of detectable vagina, location of nodular and cystic structures, number of cysts within the cystic structures, signal intensity on DWI and ADC values of the nodular structures were useful in differentiating CAIS from MRKHS.

Keywords: Complete androgen insensitivity syndrome (CAIS); Magnetic resonance imaging (MRI); Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS); Müllerian duct; Primary amenorrhea.