Complete Androgen Insensitivity Syndrome: From Bench to Bed
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 (<i>AR</i>). It is org...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-01-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/22/3/1264 |
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| author | Nina Tyutyusheva Ilaria Mancini Giampiero Igli Baroncelli Sofia D’Elios Diego Peroni Maria Cristina Meriggiola Silvano Bertelloni |
| author_facet | Nina Tyutyusheva Ilaria Mancini Giampiero Igli Baroncelli Sofia D’Elios Diego Peroni Maria Cristina Meriggiola Silvano Bertelloni |
| author_sort | Nina Tyutyusheva |
| collection | DOAJ |
| description | 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 (<i>AR</i>). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the <i>AR</i> 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. |
| first_indexed | 2024-03-09T03:29:32Z |
| format | Article |
| id | doaj.art-7e66275eb3694093b30492bce4fc2254 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T03:29:32Z |
| publishDate | 2021-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-7e66275eb3694093b30492bce4fc22542023-12-03T14:58:18ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-01-01223126410.3390/ijms22031264Complete Androgen Insensitivity Syndrome: From Bench to BedNina Tyutyusheva0Ilaria Mancini1Giampiero Igli Baroncelli2Sofia D’Elios3Diego Peroni4Maria Cristina Meriggiola5Silvano Bertelloni6Pediatric and Adolescent Endocrinology, Division of Paediatrics, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, ItalyGynecology and Human Reproduction Physiopathology Unit, IRCCS Policlinico di Sant’Orsola, DIMEC, University of Bologna, 40138 Bologna, ItalyPediatric and Adolescent Endocrinology, Division of Paediatrics, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, ItalyPediatric and Adolescent Endocrinology, Division of Paediatrics, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, ItalyPediatric and Adolescent Endocrinology, Division of Paediatrics, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, ItalyGynecology and Human Reproduction Physiopathology Unit, IRCCS Policlinico di Sant’Orsola, DIMEC, University of Bologna, 40138 Bologna, ItalyPediatric and Adolescent Endocrinology, Division of Paediatrics, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, ItalyComplete 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 (<i>AR</i>). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the <i>AR</i> 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.https://www.mdpi.com/1422-0067/22/3/1264complete androgen insensitivity syndromeandrogen receptor<i>AR</i> genegonadal neoplasiagonadal removalhormonal substitutive therapy |
| spellingShingle | Nina Tyutyusheva Ilaria Mancini Giampiero Igli Baroncelli Sofia D’Elios Diego Peroni Maria Cristina Meriggiola Silvano Bertelloni Complete Androgen Insensitivity Syndrome: From Bench to Bed International Journal of Molecular Sciences complete androgen insensitivity syndrome androgen receptor <i>AR</i> gene gonadal neoplasia gonadal removal hormonal substitutive therapy |
| title | Complete Androgen Insensitivity Syndrome: From Bench to Bed |
| title_full | Complete Androgen Insensitivity Syndrome: From Bench to Bed |
| title_fullStr | Complete Androgen Insensitivity Syndrome: From Bench to Bed |
| title_full_unstemmed | Complete Androgen Insensitivity Syndrome: From Bench to Bed |
| title_short | Complete Androgen Insensitivity Syndrome: From Bench to Bed |
| title_sort | complete androgen insensitivity syndrome from bench to bed |
| topic | complete androgen insensitivity syndrome androgen receptor <i>AR</i> gene gonadal neoplasia gonadal removal hormonal substitutive therapy |
| url | https://www.mdpi.com/1422-0067/22/3/1264 |
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