Abstract
Complete Androgen Insensitivity Syndrome (CAIS) is an X-link recessive genetic mutation of androgen receptor (AR) gene leading to complete inability of cell to respond to the androgens. CAIS occurs in 1 out of 20,400 XY live-birth babies, and affects about 1–2% of prepubertal girls that present with an inguinal hernia. Although individuals with CAIS have XY, those with grades 6 and 7 on the Quigley scale are born phenotypically female, without any signs of genital masculinization. Thus, individuals affected by CAIS develop a normal external female phenotype with normal female external genitalia, well-developed breast, absent uterus, and bilateral undescended testicles. The question of CAIS diagnosis does not come forward until the absent menses at the puberty is noted or accidentally during an inguinal hernia repair in a premenarchal girl. The present study reports a case of inguinal hernia repair on 11-year-old girl, which led to unexpected intraoperative notion of CAIS. The diagnostic work-up, genetic counseling, sex assignment, and the need for preoperative CAIS screening in girls with bilateral inguinal hernia are described and discussed.
 Keywords: DSD, CAIS, bilateral inguinal hernia, gonadectomy
Highlights
The aforementioned case represents the dramatic scenario of intraoperative finding in a girl with Complete Androgen Insensitivity Syndrome (CAIS)
It has been suggested that all premenstrual girls with inguinal hernias should undergo chromosomal study to rule out the possibility of an early diagnosis of CAIS [3]
This idea originates from the increased prevalence (0.8–2.4%) of CAIS in phenotypic females presenting with inguinal hernias [4]
Summary
M. Ibnouf Complete Androgen Insensitivity Syndrome (CAIS) is a rare disorder of sex development (DSD). It is manifested due to mutation in androgen receptor (AR) gene which has been mapped to Xq11-12 [1]. Diagnosis of Complete Androgen Insensitivity Syndrome (CAIS) During Inguinal Hernia Repair in 11-year-old-girl,” Sudan Journal of Medical Sciences, Page 70 vol 16, Issue no. CAIS is diagnosed after puberty, it can be seen accidentally during surgical repair in girls with bilateral inguinal hernia. Controversy exists about the need to screen premenstrual girls with bilateral inguinal hernia, the best methods of the screening, and the suitable time for gonadectomy. This report describes unexpected intraoperative findings (testis) during a repair of inguinal hernia in 11-year-old girl, which was later diagnosed as CAIS
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