For some people, this is apparently not the case. http://www.nlm.nih.gov/medlineplus/ency/article/001180.htm
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Testicular feminization
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Illustrations
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Alternative names Return to top
Androgen insensitivity syndromeA syndrome found in a person who has X,Y chromosomes, but who is resistant to androgens (male hormones). As a result, the individual has the physical characteristics of a female.
Causes and risks Return to top
The syndrome is caused by various genetic mutations on the X chromosome. The mutations make a developing male baby unable to respond to androgens. (Androgens are responsible for male physical characteristics.) This prevents the development of the penis and other male body parts. The child is born appearing to be a girl.
At puberty, female secondary sex characteristics (e.g., breasts) develop, but menstruation and fertility do not.
In its classic form (complete androgen resistance), the person appears to be female but has no uterus, and has sparse armpit and pubic hair. Some people with this condition are not diagnosed until they try to become pregnant and find that they are infertile.
Sometimes only partial resistance to androgens occurs. In these cases, a person may have both male and female physical characteristics, or sometimes just a low sperm count.
Signs may include:
- small clitoris and labia minora
- 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
- Luteinizing hormone (LH) levels -- high
- Follicle-stimulating hormone (FSH) levels -- normal
- Sonogram -- shows an absent uterus or an 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):
- Increased basal and hCG-induced testosterone
- Normal dihydrotestosterone
Treatment may include:
- Removal of testicular tissue (which can become cancerous in 5 to 20% of cases after puberty)
- Estrogen replacement after puberty
- Support of gender identity
Prognosis Return to topThe outlook is good if at-risk testicular tissue is removed.
Complications Return to topComplications include testicular cancer and infertility.
Call your health care provider if Return to topCall your health care provider if you have any signs or symptoms suggestive of the syndrome.
Update Date: 9/15/2001
Updated by: Sheila Feit, M.D., Department of Endocrinology & Metabolism, North Shore University Hospital, Manhasset, NY. Review provided by VeriMed Healthcare Network.
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