Complete Androgen Insensitivity Syndrome: From the Relevance of an Accurate Genetic Diagnosis to the Challenge of Clinical Management. A Case Report

<i>Introduction</i>: Androgen insensitivity syndrome (AIS), an X-linked recessive disorder of sex development (DSD), is caused by variants of the androgen receptor (<i>AR</i>) gene, mapping in the long arm of the X chromosome, which cause a complete loss of function of the re...

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Autores principales:	Federica Barbagallo, Rossella Cannarella, Matteo Bertelli, Andrea Crafa, Sandro La Vignera, Rosita A. Condorelli, Aldo E. Calogero
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	complete androgen insensitivity syndrome disorders of sexual development androgen receptor <i>AR</i> gene Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/58b2716b6bd049098125e05ef7d5b6f1
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spelling	oai:doaj.org-article:58b2716b6bd049098125e05ef7d5b6f12021-11-25T18:17:59ZComplete Androgen Insensitivity Syndrome: From the Relevance of an Accurate Genetic Diagnosis to the Challenge of Clinical Management. A Case Report10.3390/medicina571111421648-91441010-660Xhttps://doaj.org/article/58b2716b6bd049098125e05ef7d5b6f12021-10-01T00:00:00Zhttps://www.mdpi.com/1648-9144/57/11/1142https://doaj.org/toc/1010-660Xhttps://doaj.org/toc/1648-9144<i>Introduction</i>: Androgen insensitivity syndrome (AIS), an X-linked recessive disorder of sex development (DSD), is caused by variants of the androgen receptor (<i>AR</i>) gene, mapping in the long arm of the X chromosome, which cause a complete loss of function of the receptor. <i>Case presentation</i>: We report a patient diagnosed with complete AIS (CAIS) at birth due to swelling in the bilateral inguinal region. Transabdominal ultrasound revealed the absence of the uterus and ovaries and the presence of bilateral testes in the inguinal region. The karyotype was 46,XY. She underwent bilateral orchiectomy at 9 months and was given estrogen substitutive therapy at the age of 11 years. Genetic analysis of the AR gene variants was requested when, at the age of 20, the patient came to our observation. <i>Methods</i>: The genetic testing was performed by next-generation sequence (NGS) analysis. <i>Results</i>: The genetic analysis showed the presence of the c.2242T>A, p.(Phe748Ile) variant in the <i>AR</i> gene. To the best of our knowledge, this variant has not been published so far. Furthermore, the patient has a heterozygous c.317A>G, p.(Gln106Arg) variation of the gonadotropin-releasing hormone receptor (<i>GNRHR</i>) gene, a heterozygous c.2273G>A, p.Arg758His variation of the chromodomain helicase DNA binding protein <i>7</i> (<i>CHD7</i>) gene, and compound heterozygous c.875A>G, p.Tyr292Cys, and c.8023A>G, p.Ile2675Val variations of the Dynein Axonemal Heavy Chain <i>11</i> (<i>DNAH11</i>) gene. <i>Conclusions</i>: The case herein reported underlines the importance of an accurate genetic analysis that has to include karyotype and <i>AR</i> gene variant analysis. This is useful to confirm a clinical diagnosis and establish the proper management of patients with CAIS. Numerous variants of the <i>AR</i> gene have not yet been identified. Moreover, several pitfalls are still present in the management of these patients. More studies are needed to answer unresolved questions, and common protocols are required for the clinical follow-up of patients with CAIS.Federica BarbagalloRossella CannarellaMatteo BertelliAndrea CrafaSandro La VigneraRosita A. CondorelliAldo E. CalogeroMDPI AGarticlecomplete androgen insensitivity syndromedisorders of sexual developmentandrogen receptor<i>AR</i> geneMedicine (General)R5-920ENMedicina, Vol 57, Iss 1142, p 1142 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	complete androgen insensitivity syndrome disorders of sexual development androgen receptor <i>AR</i> gene Medicine (General) R5-920
spellingShingle	complete androgen insensitivity syndrome disorders of sexual development androgen receptor <i>AR</i> gene Medicine (General) R5-920 Federica Barbagallo Rossella Cannarella Matteo Bertelli Andrea Crafa Sandro La Vignera Rosita A. Condorelli Aldo E. Calogero Complete Androgen Insensitivity Syndrome: From the Relevance of an Accurate Genetic Diagnosis to the Challenge of Clinical Management. A Case Report
description	<i>Introduction</i>: Androgen insensitivity syndrome (AIS), an X-linked recessive disorder of sex development (DSD), is caused by variants of the androgen receptor (<i>AR</i>) gene, mapping in the long arm of the X chromosome, which cause a complete loss of function of the receptor. <i>Case presentation</i>: We report a patient diagnosed with complete AIS (CAIS) at birth due to swelling in the bilateral inguinal region. Transabdominal ultrasound revealed the absence of the uterus and ovaries and the presence of bilateral testes in the inguinal region. The karyotype was 46,XY. She underwent bilateral orchiectomy at 9 months and was given estrogen substitutive therapy at the age of 11 years. Genetic analysis of the AR gene variants was requested when, at the age of 20, the patient came to our observation. <i>Methods</i>: The genetic testing was performed by next-generation sequence (NGS) analysis. <i>Results</i>: The genetic analysis showed the presence of the c.2242T>A, p.(Phe748Ile) variant in the <i>AR</i> gene. To the best of our knowledge, this variant has not been published so far. Furthermore, the patient has a heterozygous c.317A>G, p.(Gln106Arg) variation of the gonadotropin-releasing hormone receptor (<i>GNRHR</i>) gene, a heterozygous c.2273G>A, p.Arg758His variation of the chromodomain helicase DNA binding protein <i>7</i> (<i>CHD7</i>) gene, and compound heterozygous c.875A>G, p.Tyr292Cys, and c.8023A>G, p.Ile2675Val variations of the Dynein Axonemal Heavy Chain <i>11</i> (<i>DNAH11</i>) gene. <i>Conclusions</i>: The case herein reported underlines the importance of an accurate genetic analysis that has to include karyotype and <i>AR</i> gene variant analysis. This is useful to confirm a clinical diagnosis and establish the proper management of patients with CAIS. Numerous variants of the <i>AR</i> gene have not yet been identified. Moreover, several pitfalls are still present in the management of these patients. More studies are needed to answer unresolved questions, and common protocols are required for the clinical follow-up of patients with CAIS.
format	article
author	Federica Barbagallo Rossella Cannarella Matteo Bertelli Andrea Crafa Sandro La Vignera Rosita A. Condorelli Aldo E. Calogero
author_facet	Federica Barbagallo Rossella Cannarella Matteo Bertelli Andrea Crafa Sandro La Vignera Rosita A. Condorelli Aldo E. Calogero
author_sort	Federica Barbagallo
title	Complete Androgen Insensitivity Syndrome: From the Relevance of an Accurate Genetic Diagnosis to the Challenge of Clinical Management. A Case Report
title_short	Complete Androgen Insensitivity Syndrome: From the Relevance of an Accurate Genetic Diagnosis to the Challenge of Clinical Management. A Case Report
title_full	Complete Androgen Insensitivity Syndrome: From the Relevance of an Accurate Genetic Diagnosis to the Challenge of Clinical Management. A Case Report
title_fullStr	Complete Androgen Insensitivity Syndrome: From the Relevance of an Accurate Genetic Diagnosis to the Challenge of Clinical Management. A Case Report
title_full_unstemmed	Complete Androgen Insensitivity Syndrome: From the Relevance of an Accurate Genetic Diagnosis to the Challenge of Clinical Management. A Case Report
title_sort	complete androgen insensitivity syndrome: from the relevance of an accurate genetic diagnosis to the challenge of clinical management. a case report
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/58b2716b6bd049098125e05ef7d5b6f1
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Complete Androgen Insensitivity Syndrome: From the Relevance of an Accurate Genetic Diagnosis to the Challenge of Clinical Management. A Case Report

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