Androgen insensitivity syndrome
What is it?
Androgen insensitivity syndrome (AIS) is a condition in which the receptors of androgens do not function as it should, causing hormonal resistance. This disorder can result in either partial or complete inability to respond to androgens. In this syndrome, babies who are born as males have an impaired development of male genitals and secondary sexual charchterestis in puberty. In complete androgen insensitivity syndrome, the genitals appear female, and in the partial type it may appear as female or male. AIS is caused due to genetic mutation. If a female carries the AIS mutation, it does not affect her but she could pass it on to her children.
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Signs & symptoms
Symptoms of complete AIS include a baby boy with undescended testis, female genitalia like vagina and labia. Symptoms of partial AIS may vary and may include enlarged clitoris, partially undescended testicles, and hypospadias.
Diagnosis
Diagnosis is made sometimes at birth or later in life, depending on the severity of the syndrome. The complete type is more difficult to diagnose as the babies seem as girls, and only when periods do not start, the diagnosis is done. Additional tests may include genetic testing and measurement of sex hormone levels. An US scan may be done to look for the presence of the uterus and ovaries.
Treatment
There is no cure for AIS, and treatment is mainly based on psychological support for the children and their parents. Some children, when they get older, choose to undergo surgeries or take hormonal supplements.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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