S12 

Complete Androgen Insensitivity Syndrome: Diagnosis and Psychological Impact in 

Adolescence, A Case Report 

 
Salma Yasmin Mohd Yusuf1, Mazapuspavina Md Yasin1, Akmal Zulayla Mohd Zahid1, Akmal 

Hisham Arshad1, Khariah Mat Nor1 

 

 

Abstract 

 

This case report illustrates the case of complete androgen insensitivity syndrome (CAIS) which 

is a rare form of sexual development disorders (DSD). Complex critical thinking is needed for 

pathophysiology of primary amenorrhea causes and sex chromosomes differences of sexual 

development, such as primary ovarian failure, Mullerian Agenesis or disorders with abnormal 

androgen synthesis or response. This is a phenotypically female who presented with primary 

amenorrhea at the age of 19 years old. Normal levels of thyroid function test, serum prolactin 

and follicle stimulating hormone ruled out hypothyroidism, hyperprolactinemia, and primary 

ovarian failure. Magnetic resonance imaging showed absence of uterus, fallopian tubes, 

ovaries, but presence of proximal 1/3rd of the vagina. There is a single testis in the left inguinal 

region with unknown status of spermatogenesis. The chromosomal analysis revealed 46, XY 

karyotype conveying the patient is genotypically male. The testis-determining factor (TDF) 

test or sex-determining region Y (SRY) protein for male sex determination was not done. 

Similar presentation of primary amenorrhea diagnosis of CAIS was made to her 18-year-old 

sister. Women with CAIS are vulnerable to various psychological conditions caused by the 

appalling fact of being genotypically male when they have been raised female all their life. The 

gender confusion, reproductive issues and how others perceive them in the outside world 

require sensitive support. Hence, accentuate the need to address the emotional, psychological, 

and psychiatric vulnerabilities in issues pertaining to relationships, infertility and conception. 

Keywords: complete androgen insensitivity syndrome, psychological impact, adolescence 

 

1. Primary Care Medicine Department, Faculty of Medicine, Universiti Teknologi MARA 

  

DOI: http://dx.doi.org/10.31344/ijhhs.v5i0-2.330  
  

http://dx.doi.org/10.31344/ijhhs.v5i0-2.330