{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T22:11:33Z","timestamp":1792015893026,"version":"4.4.0"},"reference-count":54,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2021,1,27]],"date-time":"2021-01-27T00:00:00Z","timestamp":1611705600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (AR). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the AR gene have been reported in CAIS. They are distributed throughout the gene with a preponderance located in the ligand-binding domain. CAIS mainly presents as primary amenorrhea in an adolescent female or as a bilateral inguinal\/labial hernia containing testes in prepubertal children. Some issues regarding the management of females with CAIS remain poorly standardized (such as the follow-up of intact testes, the timing of gonadal removal and optimal hormone replacement therapy). Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk). An expert multidisciplinary approach is mandatory to increase the long-term quality of life of women with CAIS.<\/jats:p>","DOI":"10.3390\/ijms22031264","type":"journal-article","created":{"date-parts":[[2021,1,27]],"date-time":"2021-01-27T20:21:51Z","timestamp":1611778911000},"page":"1264","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":66,"title":["Complete Androgen Insensitivity Syndrome: From Bench to Bed"],"prefix":"10.3390","volume":"22","author":[{"given":"Nina","family":"Tyutyusheva","sequence":"first","affiliation":[{"name":"Pediatric and Adolescent Endocrinology, Division of Paediatrics, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6285-8382","authenticated-orcid":false,"given":"Ilaria","family":"Mancini","sequence":"additional","affiliation":[{"name":"Gynecology and Human Reproduction Physiopathology Unit, IRCCS Policlinico di Sant\u2019Orsola, DIMEC, University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giampiero Igli","family":"Baroncelli","sequence":"additional","affiliation":[{"name":"Pediatric and Adolescent Endocrinology, Division of Paediatrics, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"D\u2019Elios","sequence":"additional","affiliation":[{"name":"Pediatric and Adolescent Endocrinology, Division of Paediatrics, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0234-1373","authenticated-orcid":false,"given":"Diego","family":"Peroni","sequence":"additional","affiliation":[{"name":"Pediatric and Adolescent Endocrinology, Division of Paediatrics, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0061-9834","authenticated-orcid":false,"given":"Maria Cristina","family":"Meriggiola","sequence":"additional","affiliation":[{"name":"Gynecology and Human Reproduction Physiopathology Unit, IRCCS Policlinico di Sant\u2019Orsola, DIMEC, University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1264-3284","authenticated-orcid":false,"given":"Silvano","family":"Bertelloni","sequence":"additional","affiliation":[{"name":"Pediatric and Adolescent Endocrinology, Division of Paediatrics, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,1,27]]},"reference":[{"key":"ref_1","first-page":"271","article-title":"Androgen receptor defects: Historical, clinical, and molecular perspectives","volume":"16","author":"Quigley","year":"1995","journal-title":"Endocr. 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