Last Updated on February 2, 2023 by Dr. Saqib Mueed
Complete Androgen-Insensitivity Syndrome (CIAS) is the condition when an individual is genetically male i.e, (X and Y chromosomes) but physically or phenotypically like a female. This occurs due to the non-respondent of the body to male sex hormones.
These types of males have female external genitalia and female-type breasts, but they do not undergo menstruation, nor can they get pregnant. https://www.scielo.br/j/aem/a/98DLW9RbrG7knCMNdRcGdtM/?lang=en&format=pdf
This disease is caused by genetic problems on the X-sex chromosome, within the male sex gene and the body becomes unable to respond to male hormones. Androgen insensitivity syndrome (europeanreview.org)
Signs and Symptoms
Until puberty, no sign or symptom of the Complete Androgen-Insensitivity Syndrome (CAIS) is developed. All the events are almost normal female except that the absence of menses, secondary sex hair, and pubic hairs do not improve.
External genitalia is almost normal. Only some in cases libido and clitoris are underdeveloped. The vaginal closure depth of Complete Androgen-Insensitivity Syndrome (CAIS) affected females is measured to be 5.9cm, whereas it was estimated to be 11.1cm for unaffected women.
The gonads of such women are not similar to normal females, such as ovaries, but they have testes. During the developmental phases, the testes form due to the SRY gene on the Y chromosome, which is an independent androgen process. Still, the testes are present intra-abdominally or may be present within labia majora.
Testosterone produced from the testes of affected people could not be utilized. which results in the formation of the female phenotype.
Androgens are required for the maturity of sperms. In order to complete the spermatogenesis, therefore, in CAIS condition, the immature sperms cells (Spermatozoa) in testes do not mature, Germ cell malignancy results.
Some other differences have also been reported which include larger hands and feet, longer limbs and relatively high stature than the normal women, large teeth, no very minimum acne, well developed and proper sized breasts.
Complete Androgen-Insensitivity Syndrome (CAIS) also leads individuals to infertility; they are not able to conceive children. This disorder is linked with decreased density in the bones of minerals which are mostly seen in women who have the disease and it is related to the time of estrogen supplementation and gonadectomy. Complete Androgen Insensitivity Syndrome – an overview | ScienceDirect Topics
In normal phenotype females, CAIS can only be diagnosed until puberty comes.
Comparison of the karyotype is also an option.
Following some options for management of (CAIS)
- Hormone replacement therapy
- Genetic and psychological counseling
- Awareness of genes Androgen insensitivity syndrome (europeanreview.org)
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|Androgen insensitivity syndrome (europeanreview.org)
|Complete Androgen Insensitivity Syndrome – an overview | ScienceDirect Topics