Testicular Feminization syndrome (so called “Androgen Insensitivity Syndrome”) is a genetic condition (disorder) when female body with male XY genetics is not able to response to existing male hormone (testosterone). During Testicular Feminization (TF), the male XY fetuses insensitive (unresponsive) to androgens (male hormones, mainly testosterone) – instead babies are born looking externally like normal girls but internally they have short blind-pouch vagina and no uterus, fallopian tubes or ovaries. Babies with TF have testes in the abdomen or the inguinal canal. This is the main reason why menstrual cycles are not possible and these girls always have amenorrhea (absence of periods).
Many clients with Testicular Feminization are very sensitive and this is why often the syndrome called “Androgen Insensitivity Syndrome”.
Person with Testicular Feminization will develop on the outside as a female. Inside, there is a vagina, but the upper part of the uterus and the Fallopian tubes are missing. There are underdeveloped testicles in the pelvis. Externally, the person looks like a completely normal female.
In most cases the TF is detected during puberty because girls are expecting their first period which is not starting. At the same time many girls with TF have limited pubic and/or armpit hair. Often doctors mention that clients with Testicular Feminization are tall, beautiful, with luxurious scalp, well developed breasts. It is well known that some celebrities had Testicular Feminization.
Model – actress – jazz singer
Testicular Feminization is caused by various genetic defects on the X chromosome that make the body unable to respond to the hormones responsible for the male appearance.
There are two types of Testicular Feminization – complete and incomplete.
Complete Testicular Feminization usually prevents the development of any male components of the body including penis. Baby with complete Testicular Feminization is born as a girl. The frequency of Testicular Feminization is about 1 case in 20000 live births.
Incomplete Testicular Feminization could be different and have variations. Incomplete Testicular Feminization can include other disorders such as Reifenstein syndrome (so called “Gilbert-Dreyfus syndrome” or “Lubs syndrome”). Incomplete Testicular Feminization could develop some parts and/or elements of male body.
Testicular Feminization causes
TF is caused by various genetic defects on the X chromosome that make the body unable to respond to the hormones responsible for the male appearance – it is when a person who is genetically male (has one X and one Y chromosome) is resistant to male hormones called androgens (mainly testosterone). As a result, the person has some or all of the physical characteristics of a woman, despite having the genetic makeup of a man.
The gene responsible for TF is on the X chromosome – in band Xq11-q12. The gene codes for the androgen receptor (so called “dihydro-testosterone receptor”). This gene is mutant in the complete androgen insensitivity syndrome. As aresult of the mutation the body cells cannot respond to testosterone and/or other androgens. If a woman has the mutation on one of her X chromosomes, the risk for each of her XY offspring to receive the gene and have the syndrome is one-half (50%).
Clients with complete Testicular Feminization appear to be beautiful females without uterus, without menstrual periods (amenorrhea), limited armpit and pubic hair. Persons with TF have well developed breasts but they are infertile.
Typical symptoms include the following:
- Well developed female body,
- Limited armpit and pubic hair,
- Normal female breast development,
- Normal appearing female external genitals,
- Short vagina without cervix and without uterus,
- Inguinal hernia with a testis that can be felt during a physical exam,
Persons with incomplete AIS may have both male and female physical characteristics. Many have partial closing of the outer vaginal lips, an enlarged clitoris, and a short vagina.
Medical tests used to diagnose this disease include:
- Hormonal tests – testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH);
- Genetic tests (karyotyping) – XY;
- Pelvic ultrasound – absence of uterus, Fallopian tubes and ovaries.
There are not many solutions for TF (Androgen Insensitivity Syndrome).
- Unusually located testicular tissue is recommended to be removed (but after puberty).
- Testis should be removed because they can develop cancer like any undescended testicle.
- Estrogen replacement is prescribed after puberty.
- Counseling could be recommended if clients have any social and/or emotional problems.
- Sometimes surgery is done to create a functional vagina for the purposes of intercourse, but not reproduction.
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