Androgen insensitivity syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Male reproductive anatomy

Androgen insensitivity syndrome

Alternative Names:

Testicular feminization

Symptoms:

In its classic form (complete androgen resistance), the person appears to be female but has no uterus, and has sparse armpit and pubic hair. At puberty, female secondary sex characteristics (e.g., breasts) develop, but menstruation and fertility do not.

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Complete AIS is rarely discovered during childhood, unless a mass is felt in the abdomen or groin that turns out to be a testicle when it is explored surgically. Most with this condition are not diagnosed until they fail to menstruate or they try to become pregnant and find that they are infertile.

Incomplete AIS, however, is often discovered during childhood because a person may have both male and female physical characteristics. Many have partial fusion of the outer vaginal lips, an enlarged clitoris, and a short, blind-ending vagina.

The individual is often diagnosed because of ambiguous genitalia. Sometimes, though, the person has primarily male characteristics and the only symptom is a low sperm count as an adult, perhaps with breast enlargement.

Signs and tests:

Signs may include:

vagina present but no cervix or uterus
normal female breast development
testes in the inguinal canal, labia, or abdomen
inguinal hernia with palpable gonad

Tests:

Testosterone levels -- in the male range
XY Karyotyping -- the presence of one X and one Y sex chromosome indicates male gender
Luteinizing hormone (LH) levels -- high
Follicle-stimulating hormone (FSH) levels -- normal
Sonogram -- shows an absent uterus or intra-abdominal testes
Androgen receptor studies (research setting) may confirm the syndrome

Tests which may distinguish androgen resistance from androgen deficiency (or 5-alpha reductase deficiency):