Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk
<i>Background:</i> Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex development characterized by 46,XY karyotype and testes, yet presenting with a complete female phenotype, which is related to mutations in the androgen receptor (<i>AR</i>) gene. <...
Saved in:
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2024-10-01
|
| Series: | Diseases |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2079-9721/12/10/235 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850204657173921792 |
|---|---|
| author | Barbara Fraccascia Giorgio Sodero Lucia Celeste Pane Elena Malavolta Caterina Gola Luigi Pane Valentina Filomena Paradiso Lorenzo Nanni Donato Rigante Clelia Cipolla |
| author_facet | Barbara Fraccascia Giorgio Sodero Lucia Celeste Pane Elena Malavolta Caterina Gola Luigi Pane Valentina Filomena Paradiso Lorenzo Nanni Donato Rigante Clelia Cipolla |
| author_sort | Barbara Fraccascia |
| collection | DOAJ |
| description | <i>Background:</i> Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex development characterized by 46,XY karyotype and testes, yet presenting with a complete female phenotype, which is related to mutations in the androgen receptor (<i>AR</i>) gene. <i>Case presentation:</i> We herein present the case of a 14-year-old adolescent with primary amenorrhea and suspected delayed puberty whose diagnostic journey led to the identification of CAIS through the demonstration of a novel <i>AR</i> variant (c.159_207del). <i>Case-based review:</i> Our report encompasses the complexity of CAIS management, focusing on the risk of malignancy, surveillance options, hormone replacement therapy, timing of an eventual gonadectomy, and the psychosocial impact of such a diagnosis. An algorithm has been formulated for the management of CAIS starting in adolescence, highlighting the conservative approach for those patients unwilling to undergo gonadectomy. <i>Conclusions:</i> Primary amenorrhea and delay in puberty development may provide clues, ultimately leading to a diagnosis of CAIS. This review emphasizes the cruciality of a multidisciplinary approach in managing patients with CAIS, needing for an individualized care to optimize the overall outcome. |
| format | Article |
| id | doaj-art-e643b0852bdc4d7586d1c16559260941 |
| institution | OA Journals |
| issn | 2079-9721 |
| language | English |
| publishDate | 2024-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diseases |
| spelling | doaj-art-e643b0852bdc4d7586d1c165592609412025-08-20T02:11:15ZengMDPI AGDiseases2079-97212024-10-01121023510.3390/diseases12100235Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological RiskBarbara Fraccascia0Giorgio Sodero1Lucia Celeste Pane2Elena Malavolta3Caterina Gola4Luigi Pane5Valentina Filomena Paradiso6Lorenzo Nanni7Donato Rigante8Clelia Cipolla9Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, ItalyDepartment of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, ItalyDepartment of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, ItalyDepartment of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, ItalyDepartment of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, ItalyDipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Università della Campania Luigi Vanvitelli, 81100 Naples, ItalyUnit of Pediatric Surgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, ItalyUnit of Pediatric Surgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, ItalyDepartment of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, ItalyDepartment of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy<i>Background:</i> Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex development characterized by 46,XY karyotype and testes, yet presenting with a complete female phenotype, which is related to mutations in the androgen receptor (<i>AR</i>) gene. <i>Case presentation:</i> We herein present the case of a 14-year-old adolescent with primary amenorrhea and suspected delayed puberty whose diagnostic journey led to the identification of CAIS through the demonstration of a novel <i>AR</i> variant (c.159_207del). <i>Case-based review:</i> Our report encompasses the complexity of CAIS management, focusing on the risk of malignancy, surveillance options, hormone replacement therapy, timing of an eventual gonadectomy, and the psychosocial impact of such a diagnosis. An algorithm has been formulated for the management of CAIS starting in adolescence, highlighting the conservative approach for those patients unwilling to undergo gonadectomy. <i>Conclusions:</i> Primary amenorrhea and delay in puberty development may provide clues, ultimately leading to a diagnosis of CAIS. This review emphasizes the cruciality of a multidisciplinary approach in managing patients with CAIS, needing for an individualized care to optimize the overall outcome.https://www.mdpi.com/2079-9721/12/10/235complete androgen insensitivity syndromesexual developmentdisorders of sex developmentpediatric endocrinologypersonalized medicine |
| spellingShingle | Barbara Fraccascia Giorgio Sodero Lucia Celeste Pane Elena Malavolta Caterina Gola Luigi Pane Valentina Filomena Paradiso Lorenzo Nanni Donato Rigante Clelia Cipolla Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk Diseases complete androgen insensitivity syndrome sexual development disorders of sex development pediatric endocrinology personalized medicine |
| title | Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk |
| title_full | Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk |
| title_fullStr | Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk |
| title_full_unstemmed | Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk |
| title_short | Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk |
| title_sort | complete androgen insensitivity syndrome in a young girl with primary amenorrhea and suspected delayed puberty a case based review of clinical management surgical follow up and oncological risk |
| topic | complete androgen insensitivity syndrome sexual development disorders of sex development pediatric endocrinology personalized medicine |
| url | https://www.mdpi.com/2079-9721/12/10/235 |
| work_keys_str_mv | AT barbarafraccascia completeandrogeninsensitivitysyndromeinayounggirlwithprimaryamenorrheaandsuspecteddelayedpubertyacasebasedreviewofclinicalmanagementsurgicalfollowupandoncologicalrisk AT giorgiosodero completeandrogeninsensitivitysyndromeinayounggirlwithprimaryamenorrheaandsuspecteddelayedpubertyacasebasedreviewofclinicalmanagementsurgicalfollowupandoncologicalrisk AT luciacelestepane completeandrogeninsensitivitysyndromeinayounggirlwithprimaryamenorrheaandsuspecteddelayedpubertyacasebasedreviewofclinicalmanagementsurgicalfollowupandoncologicalrisk AT elenamalavolta completeandrogeninsensitivitysyndromeinayounggirlwithprimaryamenorrheaandsuspecteddelayedpubertyacasebasedreviewofclinicalmanagementsurgicalfollowupandoncologicalrisk AT caterinagola completeandrogeninsensitivitysyndromeinayounggirlwithprimaryamenorrheaandsuspecteddelayedpubertyacasebasedreviewofclinicalmanagementsurgicalfollowupandoncologicalrisk AT luigipane completeandrogeninsensitivitysyndromeinayounggirlwithprimaryamenorrheaandsuspecteddelayedpubertyacasebasedreviewofclinicalmanagementsurgicalfollowupandoncologicalrisk AT valentinafilomenaparadiso completeandrogeninsensitivitysyndromeinayounggirlwithprimaryamenorrheaandsuspecteddelayedpubertyacasebasedreviewofclinicalmanagementsurgicalfollowupandoncologicalrisk AT lorenzonanni completeandrogeninsensitivitysyndromeinayounggirlwithprimaryamenorrheaandsuspecteddelayedpubertyacasebasedreviewofclinicalmanagementsurgicalfollowupandoncologicalrisk AT donatorigante completeandrogeninsensitivitysyndromeinayounggirlwithprimaryamenorrheaandsuspecteddelayedpubertyacasebasedreviewofclinicalmanagementsurgicalfollowupandoncologicalrisk AT cleliacipolla completeandrogeninsensitivitysyndromeinayounggirlwithprimaryamenorrheaandsuspecteddelayedpubertyacasebasedreviewofclinicalmanagementsurgicalfollowupandoncologicalrisk |