A syndrome found in a person who has X,Y chromosomes, but who is resistant to androgens (male hormones). As a result, the individual has some or all of the physical characteristics of a female. The syndrome is divided into two main categories: complete and incomplete. Complete testicular feminization results in someone who looks outwardly female. In the incomplete forms of testicular feminization syndrome, the degree of sexual ambiguity runs the gamut.
Alternative Names
Androgen insensitivity syndrome
Causes, incidence, and risk factors
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.) If the androgen insensitivity is complete, this prevents the development of the penis and other male body parts. The child is born appearing to be a girl. The complete form occurs in as many as 1 in 20,000 live births. Different degrees of androgen resistance can result in a wide variety of clinical outcomes. Incomplete testicular feminization can include other disorders, such as Reifenstein's syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome), which is associated with hypospadias, gynecomastia, and cryptorchidism. Also included in the broad category of incomplete testicular feminization is infertile male syndrome, which is sometimes due to an androgen receptor disorder.
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 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
For complete testicular feminization:
If testicular tissue is found in the abdomen or in the inguinal canal during childhood, it might not be removed at that time. Once puberty and growth are complete, the testis may be removed because it may develop cancer like any undescended testicle. In addition, gonadoblastomas are cancers that occur almost exclusively in XY gonads of people with abnormalities of sexual differentiation. Estrogen replacement after puberty. Support of gender identity. For incomplete testicular feminization:
Treatment and gender assignment can be a very complex issue, and must be individualized with great care.
Expectations (prognosis)
Infertility is expected. Otherwise, the outlook for complete testicular feminization is good if at-risk testicular tissue is removed at the proper time. The outlook for incomplete testicular feminization varies greatly depending on the presence and degree of ambiguous genitalia.
Complications
Complications include testicular cancer, infertility, and complex psychosocial issues.
Calling your health care provider
Call your health care provider if you have any signs or symptoms suggestive of the syndrome.