Health encyclopaedia

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Diagnosis of Androgen insensitivity syndrome

Individuals are often diagnosed as babies or children with a suspected inguinal hernia in the abdomen, which is later identified as testes. Some individuals with PAIS are diagnosed at birth because of their indeterminate genital organs.

Some individuals are diagnosed in the teenage years when there is a failure to start menstruation (periods) and there is a lack of pubic or body hair.

Diagnosis may involve:

• determining whether XY sex chromosomes are present,
• blood tests to study the DNA,
• ultrasound examination of the pelvis and groin area to check for the presence or absence of male or female organs,
• and family analysis to discover a line of inheritance through maternal lines.

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