Complete Androgen Insensitivity Syndrome (CAIS) is a rare X-linked recessive disorder. Patients have 46 XY karyotype, and the external genitalia is of a normal female.
In this manuscript, we describe a nine year old child diagnosed at three years of age with Autoimmune Polyendocrine Syndrome type-1 (APS-1). The external genitalia was of normal female with no hernia. Parents initially declined any endocrine disorder in the family. Genetic study, which was recently available to us, revealed an X-linked recessive (AR) gene associated with androgen insensitivity in a 46 XY individual. Screening the family indicated that the maternal aunt is also having androgen insensitivity. Parents then admitted that they knew that they have a child with testicular feminization. The management of this disorder and the importance of education are highlighted.
%0 Journal Article
%1 sharifa_da_alisa_2023_7948484
%A Alisa, Sharifa DA
%A Elawad, Areej Taha
%A Aljurayyan, Rushaid NA
%A Aljurayyan, Nasir. A. M
%D 2023
%J World Journal of Biology Pharmacy and Health Sciences
%K (APS-1) Autoimmune Polyendocrine Syndrome type-1
%N 2
%P 005–008
%R 10.30574/wjbphs.2023.13.2.0072
%T Delay in diagnosis of testicular feminization in a child with auto-immune polyendocrine syndrome type-1 (APS-1): Who is responsible?
%U https://wjbphs.com/content/delay-diagnosis-testicular-feminization-child-auto-immune-polyendocrine-syndrome-type-1-aps
%V 13
%X Complete Androgen Insensitivity Syndrome (CAIS) is a rare X-linked recessive disorder. Patients have 46 XY karyotype, and the external genitalia is of a normal female.
In this manuscript, we describe a nine year old child diagnosed at three years of age with Autoimmune Polyendocrine Syndrome type-1 (APS-1). The external genitalia was of normal female with no hernia. Parents initially declined any endocrine disorder in the family. Genetic study, which was recently available to us, revealed an X-linked recessive (AR) gene associated with androgen insensitivity in a 46 XY individual. Screening the family indicated that the maternal aunt is also having androgen insensitivity. Parents then admitted that they knew that they have a child with testicular feminization. The management of this disorder and the importance of education are highlighted.
@article{sharifa_da_alisa_2023_7948484,
abstract = {Complete Androgen Insensitivity Syndrome (CAIS) is a rare X-linked recessive disorder. Patients have 46 XY karyotype, and the external genitalia is of a normal female.
In this manuscript, we describe a nine year old child diagnosed at three years of age with Autoimmune Polyendocrine Syndrome type-1 (APS-1). The external genitalia was of normal female with no hernia. Parents initially declined any endocrine disorder in the family. Genetic study, which was recently available to us, revealed an X-linked recessive (AR) gene associated with androgen insensitivity in a 46 XY individual. Screening the family indicated that the maternal aunt is also having androgen insensitivity. Parents then admitted that they knew that they have a child with testicular feminization. The management of this disorder and the importance of education are highlighted.},
added-at = {2023-07-17T07:45:43.000+0200},
author = {Alisa, Sharifa DA and Elawad, Areej Taha and Aljurayyan, Rushaid NA and Aljurayyan, Nasir. A. M},
biburl = {https://www.bibsonomy.org/bibtex/23436a2624f9f57710622337ae40a9783/wjbphsjournal},
doi = {10.30574/wjbphs.2023.13.2.0072},
interhash = {001ea44b943b0dd5c71e86b236c4afc9},
intrahash = {3436a2624f9f57710622337ae40a9783},
issn = {2582-5542},
journal = {{World Journal of Biology Pharmacy and Health Sciences}},
keywords = {(APS-1) Autoimmune Polyendocrine Syndrome type-1},
month = feb,
number = 2,
pages = {005–008},
timestamp = {2023-07-17T07:45:43.000+0200},
title = {Delay in diagnosis of testicular feminization in a child with auto-immune polyendocrine syndrome type-1 (APS-1): Who is responsible?},
url = {https://wjbphs.com/content/delay-diagnosis-testicular-feminization-child-auto-immune-polyendocrine-syndrome-type-1-aps},
volume = 13,
year = 2023
}