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

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 amenorrhe...

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Veröffentlicht in:Abdominal imaging 2024-09, Vol.49 (9), p.3220-3231
Hauptverfasser: 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
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container_end_page 3231
container_issue 9
container_start_page 3220
container_title Abdominal imaging
container_volume 49
creator 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
description 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
doi_str_mv 10.1007/s00261-024-04282-z
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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. 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The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c326t-edefea64636a7b90f2c722e64e24ec4349dde883857e281b2aa71fbb5ed5a1c43</cites><orcidid>0000-0002-7431-004X</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00261-024-04282-z$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00261-024-04282-z$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27903,27904,41467,42536,51297</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38602521$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nakamata, Akihiro</creatorcontrib><creatorcontrib>Matsuki, Mitsuru</creatorcontrib><creatorcontrib>Otake, Yuko</creatorcontrib><creatorcontrib>Himoto, Yuki</creatorcontrib><creatorcontrib>Kaneko, Yo</creatorcontrib><creatorcontrib>Nakaya, Moto</creatorcontrib><creatorcontrib>Sudo, Naohiro</creatorcontrib><creatorcontrib>Kikuchi, Tomohiro</creatorcontrib><creatorcontrib>Watanabe, Yuriko</creatorcontrib><creatorcontrib>Kobayashi, Ryoma</creatorcontrib><creatorcontrib>Masuoka, Sota</creatorcontrib><creatorcontrib>Kunitomo, Naoki</creatorcontrib><creatorcontrib>Fujii, Hiroyuki</creatorcontrib><creatorcontrib>Hamamoto, Kohei</creatorcontrib><creatorcontrib>Mori, Harushi</creatorcontrib><title>Magnetic resonance imaging features of complete androgen insensitivity syndrome in comparison to Mayer-Rokitansky-Küster-Hauser syndrome</title><title>Abdominal imaging</title><addtitle>Abdom Radiol</addtitle><addtitle>Abdom Radiol (NY)</addtitle><description>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. 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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</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c326t-edefea64636a7b90f2c722e64e24ec4349dde883857e281b2aa71fbb5ed5a1c43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>46, XX Disorders of Sex Development - diagnostic imaging</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Amenorrhea</topic><topic>Androgen-Insensitivity Syndrome - diagnostic imaging</topic><topic>Androgens</topic><topic>Child</topic><topic>Chromosomes</topic><topic>Congenital Abnormalities - diagnostic imaging</topic><topic>Cysts</topic><topic>Diagnosis, Differential</topic><topic>Diffusion coefficient</topic><topic>Female</topic><topic>Gastroenterology</topic><topic>Hepatology</topic><topic>Humans</topic><topic>Hypoplasia</topic><topic>Imaging</topic><topic>Magnetic resonance imaging</topic><topic>Magnetic Resonance Imaging - methods</topic><topic>Male</topic><topic>Medical imaging</topic><topic>Medicine</topic><topic>Medicine &amp; Public Health</topic><topic>Mullerian Ducts - abnormalities</topic><topic>Mullerian Ducts - diagnostic imaging</topic><topic>Ovaries</topic><topic>Pelvis</topic><topic>Phenotypes</topic><topic>Radiology</topic><topic>Retrospective Studies</topic><topic>Statistical analysis</topic><topic>Vagina</topic><topic>Vagina - abnormalities</topic><topic>Vagina - diagnostic imaging</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nakamata, Akihiro</creatorcontrib><creatorcontrib>Matsuki, Mitsuru</creatorcontrib><creatorcontrib>Otake, Yuko</creatorcontrib><creatorcontrib>Himoto, Yuki</creatorcontrib><creatorcontrib>Kaneko, Yo</creatorcontrib><creatorcontrib>Nakaya, Moto</creatorcontrib><creatorcontrib>Sudo, Naohiro</creatorcontrib><creatorcontrib>Kikuchi, Tomohiro</creatorcontrib><creatorcontrib>Watanabe, Yuriko</creatorcontrib><creatorcontrib>Kobayashi, Ryoma</creatorcontrib><creatorcontrib>Masuoka, Sota</creatorcontrib><creatorcontrib>Kunitomo, Naoki</creatorcontrib><creatorcontrib>Fujii, Hiroyuki</creatorcontrib><creatorcontrib>Hamamoto, Kohei</creatorcontrib><creatorcontrib>Mori, Harushi</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Computer Science Collection</collection><collection>ProQuest Health &amp; Medical Complete (Alumni)</collection><collection>Biochemistry Abstracts 1</collection><collection>Nursing &amp; Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Abdominal imaging</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nakamata, Akihiro</au><au>Matsuki, Mitsuru</au><au>Otake, Yuko</au><au>Himoto, Yuki</au><au>Kaneko, Yo</au><au>Nakaya, Moto</au><au>Sudo, Naohiro</au><au>Kikuchi, Tomohiro</au><au>Watanabe, Yuriko</au><au>Kobayashi, Ryoma</au><au>Masuoka, Sota</au><au>Kunitomo, Naoki</au><au>Fujii, Hiroyuki</au><au>Hamamoto, Kohei</au><au>Mori, Harushi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Magnetic resonance imaging features of complete androgen insensitivity syndrome in comparison to Mayer-Rokitansky-Küster-Hauser syndrome</atitle><jtitle>Abdominal imaging</jtitle><stitle>Abdom Radiol</stitle><addtitle>Abdom Radiol (NY)</addtitle><date>2024-09-01</date><risdate>2024</risdate><volume>49</volume><issue>9</issue><spage>3220</spage><epage>3231</epage><pages>3220-3231</pages><issn>2366-0058</issn><issn>2366-004X</issn><eissn>2366-0058</eissn><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. Graphical Abstract</abstract><cop>New York</cop><pub>Springer US</pub><pmid>38602521</pmid><doi>10.1007/s00261-024-04282-z</doi><tpages>12</tpages><orcidid>https://orcid.org/0000-0002-7431-004X</orcidid></addata></record>
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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
title Magnetic resonance imaging features of complete androgen insensitivity syndrome in comparison to Mayer-Rokitansky-Küster-Hauser syndrome
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