Unexpected diagnosis of complete androgen insensitivity syndrome (CAIS) during inguinal hernia repair in 11-year-old-girl
Joint Authors
Khalid, Rayyan
Sadiq, Ala M.
Abuduam, Abd al-Rahman A.
al-Zayn, Abd al-Baqi
al-Mulla, Imad Fadl
Source
Sudan Journal of Medical Sciences
Issue
Vol. 16, Issue 1 (31 Mar. 2021), pp.70-75, 6 p.
Publisher
Omdurman Islamic University Faculty of Medicine
Publication Date
2021-03-31
Country of Publication
Sudan
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Khalid, Rayyan& Sadiq, Ala M.& Abuduam, Abd al-Rahman A.& al-Zayn, Abd al-Baqi& al-Mulla, Imad Fadl. 2021. Unexpected diagnosis of complete androgen insensitivity syndrome (CAIS) during inguinal hernia repair in 11-year-old-girl. Sudan Journal of Medical Sciences،Vol. 16, no. 1, pp.70-75.
https://search.emarefa.net/detail/BIM-1439614
Modern Language Association (MLA)
Khalid, Rayyan…[et al.]. Unexpected diagnosis of complete androgen insensitivity syndrome (CAIS) during inguinal hernia repair in 11-year-old-girl. Sudan Journal of Medical Sciences Vol. 16, no. 1 (2021), pp.70-75.
https://search.emarefa.net/detail/BIM-1439614
American Medical Association (AMA)
Khalid, Rayyan& Sadiq, Ala M.& Abuduam, Abd al-Rahman A.& al-Zayn, Abd al-Baqi& al-Mulla, Imad Fadl. Unexpected diagnosis of complete androgen insensitivity syndrome (CAIS) during inguinal hernia repair in 11-year-old-girl. Sudan Journal of Medical Sciences. 2021. Vol. 16, no. 1, pp.70-75.
https://search.emarefa.net/detail/BIM-1439614
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 74-75
Record ID
BIM-1439614