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Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical role in male sexual differentiation and development and preservation of the male phenotype. Mutations i...

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Autores principales: Heo, You Jung, Ko, Jung Min, Lee, Young Ah, Shin, Choong Ho, Yang, Sei Won, Kim, Man Jin, Park, Sung Sub
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312918/
https://www.ncbi.nlm.nih.gov/pubmed/30599484
http://dx.doi.org/10.6065/apem.2018.23.4.220
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author Heo, You Jung
Ko, Jung Min
Lee, Young Ah
Shin, Choong Ho
Yang, Sei Won
Kim, Man Jin
Park, Sung Sub
author_facet Heo, You Jung
Ko, Jung Min
Lee, Young Ah
Shin, Choong Ho
Yang, Sei Won
Kim, Man Jin
Park, Sung Sub
author_sort Heo, You Jung
collection PubMed
description Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical role in male sexual differentiation and development and preservation of the male phenotype. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male has some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, partial or mild. Here, we report 2 cases of complete AIS in young children who showed complete sex reversal from male to female as a result of AR mutations. They had palpable inguinal masses and normal female external genitalia, a blind-end vagina and absent Müllerian duct derivatives. They were both 46,XY karyotype and AR gene analysis demonstrated pathologic mutations in both. Because AIS is inherited in an X-linked recessive manner, we performed genetic analysis of the female family members of each patient and found the same mutation in the mothers of both patients and in the female sibling of case 2. Gonadectomy was performed in both patients to avoid the risk of malignancy in the undescended testicles, and estrogen replacement therapy is planned for their adolescence. Individuals with complete AIS are usually raised as females and need appropriate care.
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spelling pubmed-63129182019-01-09 Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy Heo, You Jung Ko, Jung Min Lee, Young Ah Shin, Choong Ho Yang, Sei Won Kim, Man Jin Park, Sung Sub Ann Pediatr Endocrinol Metab Case Report Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical role in male sexual differentiation and development and preservation of the male phenotype. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male has some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, partial or mild. Here, we report 2 cases of complete AIS in young children who showed complete sex reversal from male to female as a result of AR mutations. They had palpable inguinal masses and normal female external genitalia, a blind-end vagina and absent Müllerian duct derivatives. They were both 46,XY karyotype and AR gene analysis demonstrated pathologic mutations in both. Because AIS is inherited in an X-linked recessive manner, we performed genetic analysis of the female family members of each patient and found the same mutation in the mothers of both patients and in the female sibling of case 2. Gonadectomy was performed in both patients to avoid the risk of malignancy in the undescended testicles, and estrogen replacement therapy is planned for their adolescence. Individuals with complete AIS are usually raised as females and need appropriate care. Korean Society of Pediatric Endocrinology 2018-12 2018-12-31 /pmc/articles/PMC6312918/ /pubmed/30599484 http://dx.doi.org/10.6065/apem.2018.23.4.220 Text en © 2018 Annals of Pediatric Endocrinology & Metabolism This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Heo, You Jung
Ko, Jung Min
Lee, Young Ah
Shin, Choong Ho
Yang, Sei Won
Kim, Man Jin
Park, Sung Sub
Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy
title Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy
title_full Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy
title_fullStr Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy
title_full_unstemmed Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy
title_short Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy
title_sort two korean girls with complete androgen insensitivity syndrome diagnosed in infancy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312918/
https://www.ncbi.nlm.nih.gov/pubmed/30599484
http://dx.doi.org/10.6065/apem.2018.23.4.220
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