Delay in diagnosis of testicular feminization in a child with auto-immune polyendocrine syndrome type-1 (APS-1): Who is responsible?
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.
Review
World Journal of Biology Pharmacy and Health Sciences, 2023, 13(02), 005–008.
Article DOI: 10.30574/wjbphs.2023.13.2.0072
Publication history:
Received on 22 December 2022; revised on 30 January 2023; accepted on 02 February 2023
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.
Keywords:
Autoimmune Polyendocrine Syndrome type-1 (APS-1); Complete Androgen Insensitivity Syndrome (CAIS); 46XY female phenotype; Genetic study; Management; Education
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