The Intersection Of Androgen Insensitivity Syndrome And Anorectal Malformations
Androgen Insensitivity Syndrome is a form of 46,XY disorder of sex development
caused by mutations in the androgen receptor (AR) gene, leading to partial or
complete resistance to androgen action and a variable spectrum of
undervirilisation. Clinical phenotypes range from complete female external
genitalia to varying degrees of ambiguous genitalia and undervirilisation in
males, depending on residual receptor function. The classification and
diagnostic framework for AIS, including differentiation into complete, partial,
and mild forms, is well established in the literature [1]. The management of AIS and other
disorders of sex development requires a structured multidisciplinary approach
involving pediatric endocrinology, urology, genetics, psychology, and
specialised nursing care. This multidisciplinary model is strongly recommended
in established clinical guidelines for the management of infants with ambiguous
genitalia [2]. This chapter will also explore the
uncommon but clinically important co-occurrence of Anorectal
Malformations and Androgen
Insensitivity Syndrome, focusing on their diagnostic challenges,
embryological considerations, and implications for multidisciplinary neonatal
management.
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Olgular Eşliğinde Çocuk Cerrahisi
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