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Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS)

Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive genetic disorder resulting from maternally inherited or de novo mutations involving the androgen receptor gene, situated in the Xq11-q12 region. The diagnosis is based on the presence of female external genitalia in a 46, XY hu...

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Autores principales: Lanciotti, Lucia, Cofini, Marta, Leonardi, Alberto, Bertozzi, Mirko, Penta, Laura, Esposito, Susanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6480640/
https://www.ncbi.nlm.nih.gov/pubmed/30970592
http://dx.doi.org/10.3390/ijerph16071268
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author Lanciotti, Lucia
Cofini, Marta
Leonardi, Alberto
Bertozzi, Mirko
Penta, Laura
Esposito, Susanna
author_facet Lanciotti, Lucia
Cofini, Marta
Leonardi, Alberto
Bertozzi, Mirko
Penta, Laura
Esposito, Susanna
author_sort Lanciotti, Lucia
collection PubMed
description Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive genetic disorder resulting from maternally inherited or de novo mutations involving the androgen receptor gene, situated in the Xq11-q12 region. The diagnosis is based on the presence of female external genitalia in a 46, XY human individual, with normally developed but undescended testes and complete unresponsiveness of target tissues to androgens. Subsequently, pelvic ultrasound or magnetic resonance imaging (MRI) could be helpful in confirming the absence of Mullerian structures, revealing the presence of a blind-ending vagina and identifying testes. CAIS management still represents a unique challenge throughout childhood and adolescence, particularly regarding timing of gonadectomy, type of hormonal therapy, and psychological concerns. Indeed this condition is associated with an increased risk of testicular germ cell tumour (TGCT), although TGCT results less frequently than in other disorders of sex development (DSD). Furthermore, the majority of detected tumoral lesions are non-invasive and with a low probability of progression into aggressive forms. Therefore, histological, epidemiological, and prognostic features of testicular cancer in CAIS allow postponing of the gonadectomy until after pubertal age in order to guarantee the initial spontaneous pubertal development and avoid the necessity of hormonal replacement therapy (HRT) induction. However, HRT is necessary after gonadectomy in order to prevent symptoms of hypoestrogenism and to maintain secondary sexual features. This article presents differential clinical presentations and management in patients with CAIS to emphasize the continued importance of standardizing the clinical and surgical approach to this disorder.
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spelling pubmed-64806402019-04-29 Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS) Lanciotti, Lucia Cofini, Marta Leonardi, Alberto Bertozzi, Mirko Penta, Laura Esposito, Susanna Int J Environ Res Public Health Review Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive genetic disorder resulting from maternally inherited or de novo mutations involving the androgen receptor gene, situated in the Xq11-q12 region. The diagnosis is based on the presence of female external genitalia in a 46, XY human individual, with normally developed but undescended testes and complete unresponsiveness of target tissues to androgens. Subsequently, pelvic ultrasound or magnetic resonance imaging (MRI) could be helpful in confirming the absence of Mullerian structures, revealing the presence of a blind-ending vagina and identifying testes. CAIS management still represents a unique challenge throughout childhood and adolescence, particularly regarding timing of gonadectomy, type of hormonal therapy, and psychological concerns. Indeed this condition is associated with an increased risk of testicular germ cell tumour (TGCT), although TGCT results less frequently than in other disorders of sex development (DSD). Furthermore, the majority of detected tumoral lesions are non-invasive and with a low probability of progression into aggressive forms. Therefore, histological, epidemiological, and prognostic features of testicular cancer in CAIS allow postponing of the gonadectomy until after pubertal age in order to guarantee the initial spontaneous pubertal development and avoid the necessity of hormonal replacement therapy (HRT) induction. However, HRT is necessary after gonadectomy in order to prevent symptoms of hypoestrogenism and to maintain secondary sexual features. This article presents differential clinical presentations and management in patients with CAIS to emphasize the continued importance of standardizing the clinical and surgical approach to this disorder. MDPI 2019-04-09 2019-04 /pmc/articles/PMC6480640/ /pubmed/30970592 http://dx.doi.org/10.3390/ijerph16071268 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Lanciotti, Lucia
Cofini, Marta
Leonardi, Alberto
Bertozzi, Mirko
Penta, Laura
Esposito, Susanna
Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS)
title Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS)
title_full Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS)
title_fullStr Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS)
title_full_unstemmed Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS)
title_short Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS)
title_sort different clinical presentations and management in complete androgen insensitivity syndrome (cais)
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6480640/
https://www.ncbi.nlm.nih.gov/pubmed/30970592
http://dx.doi.org/10.3390/ijerph16071268
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