Delay in diagnosis of testicular feminization in a child with auto-immune polyendocrine syndrome type-1 (APS-1): Who is responsible?

نویسندگان

چکیده

Complete Androgen Insensitivity Syndrome (CAIS) is a rare X-linked recessive disorder. Patients have 46 XY karyotype, and the external genitalia of normal female. In this manuscript, we describe nine year old child diagnosed at three years age with Autoimmune Polyendocrine type-1 (APS-1). The was female no hernia. Parents initially declined any endocrine disorder in family. Genetic study, which recently available to us, revealed an (AR) gene associated androgen insensitivity individual. Screening family indicated that maternal aunt also having insensitivity. then admitted they knew testicular feminization. management importance education are highlighted.

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ژورنال

عنوان ژورنال: World Journal of Biology Pharmacy and Health Sciences

سال: 2023

ISSN: ['2582-5542']

DOI: https://doi.org/10.30574/wjbphs.2023.13.2.0072