1 Department of Pediatrics, King Khalid University Hospital, Riyadh Saudi Arabia.
2 Department of Radiology and medical imaging, college of medicine. King Khalid University Hospital, Riyadh Saudi Arabia.
3 Department of Pediatrics, college of medicine and King Khalid University Hospital. King Saud University, Riyadh, Saudi Arabia.
Received on 22 December 2022; revised on 30 January 2023; accepted on 02 February 2023
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.
Autoimmune Polyendocrine Syndrome type-1 (APS-1); Complete Androgen Insensitivity Syndrome (CAIS); 46XY female phenotype; Genetic study; Management; Education
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Sharifa DA Alisa, Areej Taha Elawad, Rushaid NA Aljurayyan and Nasir. A. M Aljurayyan. Delay in diagnosis of testicular feminization in a child with auto-immune polyendocrine syndrome type-1 (APS-1): Who is responsible?.World Journal of Biology Pharmacy and Health Sciences, 2023, 13(02), 005–008. Article DOI: https://doi.org/10.30574/wjbphs.2023.13.2.0072