Complete androgen insensitivity syndrome (CAIS)
Definition?
Complete androgen insensitivity syndrome (CAIS) is a condition
that results in the complete inability
of the cell to respond to androgens.[1][2][3]
What happened?
·
The
unresponsiveness of the cell to the presence of androgenic hormones prevents the masculinization
of male genitalia in
the developing fetus, as well as the
development of male secondary
sexual characteristics at puberty,
As such, the insensitivity to androgens is
only clinically significant when it
occurs in genetic males (i.e. individuals with a Y chromosome, or more specifically, an SRY gene).[1]
All affected
individuals
are phenotypically female; they
develop a normal female
habitus, despite the presence
of a Y chromosome.
clasificaion
CAIS is one of three types of androgen
insensitivity syndrome, which is divided into three categories that
are differentiated by the degree of genital
masculinization:
·
complete androgen
insensitivity syndrome (CAIS) is indicated when the external genitalia is that
of a normal female,
Androgen insensitivity syndrome is the
largest single entity that leads to 46,XYundermasculinization.
Diagnosis
CAIS can only be diagnosed in normal phenotypic females.[2]
·
It is not usually suspected unless the menses fail to develop at puberty, or an inguinal hernia presents during premenarche.[1][2]
·
As
many as 1-2% of prepubertal girls that
present with an inguinal hernia will also have CAIS.[1][18]
·
A diagnosis of CAIS
or Swyer syndrome can
be made in utero by comparing akaryotype obtained by amniocentesis with
the external genitalia of the fetus during a prenatal ultrasound.[2][61]
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