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

• Published in: Abdominal imaging 2024-09, Vol.49 (9), p.3220-3231
• Main Authors: Nakamata, Akihiro, Matsuki, Mitsuru, Otake, Yuko, Himoto, Yuki, Kaneko, Yo, Nakaya, Moto, Sudo, Naohiro, Kikuchi, Tomohiro, Watanabe, Yuriko, Kobayashi, Ryoma, Masuoka, Sota, Kunitomo, Naoki, Fujii, Hiroyuki, Hamamoto, Kohei, Mori, Harushi
• Format: Article
• Language: English
• Subjects: 46, XX Disorders of Sex Development - diagnostic imaging; Adolescent; Adult; Amenorrhea; Androgen-Insensitivity Syndrome - diagnostic imaging; Androgens; Child; Chromosomes; Congenital Abnormalities - diagnostic imaging; Cysts; Diagnosis, Differential; Diffusion coefficient; Female; Gastroenterology; Hepatology; Humans; Hypoplasia; Imaging; Magnetic resonance imaging; Magnetic Resonance Imaging - methods; Male; Medical imaging; Medicine; Medicine & Public Health; Mullerian Ducts - abnormalities; Mullerian Ducts - diagnostic imaging; Ovaries; Pelvis; Phenotypes; Radiology; Retrospective Studies; Statistical analysis; Vagina; Vagina - abnormalities; Vagina - diagnostic imaging; Young Adult
• ISSN: 2366-0058; 2366-004X; 2366-0058
• DOI: 10.1007/s00261-024-04282-z

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. Graphical Abstract