COMPLETE ANDROGEN INSENSITIVITY SYNDROME (CAIS)- AN UNUSUAL PRESENTATION.

Abstract

Complete androgen insensitivity syndrome
is characterized by normal female
appearance,including external genitalia
in the presence of 46 XY karyotype.
CAIS is a rare disorder, the incidence is
about 1 in 20000 live male births. We report
a case of 20 years old female with
history of primary amenorrhoea with
feminine appearance, absent secondary
sexual characters, blind ending vagina,
with 46XY karyotype. Imaging studies of
the abdomen revealed absent uterus and
ovary. Hormonal study revealed elevated
FSH and LH and low testosterone levels.
A diagnosis of complete androgen insensitivity
syndrome was made.Breasts are
usually well developed and testosterone
levels are elevated in CAIS. Unusual in
our case was absence of breast development
and low testosterone levels. At 6
years of age, the girl was operated for
inguinal swelling, which could have been
gonadectomy.
This gonadectomy would explain the absence
of secondary sexual characters and
low testosterone levels in this case. Adequate
counseling for future rearing was
given to the girl and her parents.