Testicular Feminization
Alternate Names : Androgen Insensitivity Syndrome
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Diagnosis & 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):
- Increased basal and hCG-induced testosterone
- Normal dihydrotestosterone
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