%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 }