Diseases

Complete Androgen Resistance – Causes, Symptoms & Treatment

Complete androgen resistance

Doctors understand complete androgen resistance to be a mutation that produces female phenotypes from male Karotypes. Patients have a blind vagina and their testicles are affected by testicular dystopia. The testicles are removed before the age of 20 to reduce the risk of degeneration.

What is Complete Androgen Resistance?

Complete androgen resistance , also known as Goldberg-Maxwell-Morris syndrome , is a form of intersexuality caused by peripheral hormone receptor dysfunction. The receptor defect is genetic and corresponds to a complete resistance of the androgen receptors. Testosterone thus has no effect on the body.

This phenomenon manifests itself in an absolutely female figure, although the genetic check type corresponds to that of a man. Patients have a blind-ending vagina and their testicles are usually affected by testicular dystopia . The social gender of those affected is female in almost all cases. About one in 20,000 people is born with complete androgen resistance.

causes

In the case of complete androgen resistance, a defect is localized on the long arm of the respective X chromosome (Xq11). This defect corresponds to a mutation in the gene coding for androgen receptors. The mutation usually corresponds to a point mutation that changes the amino acid sequence. This changes the molecular structure of the androgen receptors so that hormone binding is no longer possible. Because of the lack of testosterone binding, a pseudo-female phenotype develops.Some patients have a mosaic mutation rather than a point mutation, meaning that the person has cell populations with both mutant and correct androgen receptors at the same time. Environmental toxins such as bisphenol A are currently being discussed as the cause of the mutation . The defect can be passed on in X-linked recessive inheritance.

Symptoms, Ailments & Signs

Most patients with complete androgen resistance are unequivocally judged to be girls at birth. Sometimes patients are taller than average at birth. The testicles are often located inside the abdomen or in the groin area. This is testicular dystopia, which can be detected by palpation shortly after birth. The created vagina remains shortened and has a blind end.

Neither the uterus nor the patient’s fallopian tubes develop over the course of their lives. Female development is otherwise not disturbed. Breasts do form. However, there is no armpit and pubic hair, so those affected often speak of hairless women. During puberty, menstrual bleeding does not occur in completely androgen-resistant people because of the missing sex organs.

Diagnosis & disease progression

Complete androgen resistance is often not diagnosed before puberty . Usually only the absence of menstruation arouses a first suspicion. Sometimes those affected are only motivated to visit a doctor by an unfulfilled desire to have children. If the diagnosis is made immediately after birth, it is usually because of a bulge in the groin or labia majora.

This protrusion corresponds to undescended testicles and can be detected as such by means of ultrasound . To confirm the diagnosis, a laboratory uses the patient’s serum to create a karyogram. When making the diagnosis, the doctor must show sensitivity and, if necessary, provide the person concerned with psychotherapeutic help .

complications

Complete androgen resistance causes various symptoms. As a rule, not only physical, but also strong psychological complaints occur. The patients feel very uncomfortable with their body and can also be ashamed of it. It is not uncommon for depression or other mental upsets to occur.

 

There are strong characteristics of a woman that can also lead to mood swings and inferiority complexes in a man. It is also not uncommon for the sexual organs to be missing and puberty either does not occur or occurs only very slowly. The patient’s quality of life is severely limited and reduced by the complete androgen resistance. The risk of testicular cancer also increases enormously, possibly leading to a reduced life expectancy for the patient.

Treatment of complete androgen resistance usually does not result in any particular complications or symptoms. The testicles can be removed with the help of an operation. A vagina can also be created so that the person concerned can also take part in sexual intercourse. Not infrequently, psychological treatment of the patient is also necessary, whereby the parents or relatives can also be affected by this disease.

When should you go to the doctor?

If complete androgen resistance is suspected, the gynecologist or urologist must be consulted. Young women who have missed or delayed menstrual periods at the onset of puberty should seek medical advice. The same applies to young men who develop no testicles or small testicles during the growth phase. Complete androgen resistance does not always have to cause symptoms or complications, which is why medical evaluation is not always necessary.

In most cases, however, there are physical and psychological problems that need to be treated. A full sex life can only be achieved through early and usually lengthy therapy. In the best case, the disease is recognized before the onset of puberty. Then the hormone therapy can be initiated in good time and the female development can be optimally promoted. Various side effects can occur during treatment, which is why the patient should consult the doctor closely. The medical professional must be informed of any unusual symptoms. Even after the initial treatment, regular check-ups by the gynecologist are necessary.

Treatment & Therapy

Undescended testicles are associated with a risk of degeneration. For those affected, the risk of malignant testicular cancer is usually 32 times higher than for healthy people. Therefore, testicular dystopia must be corrected surgically in most cases. The testicles in the abdominal cavity, which are most common in androgen-resistant people, have a 25 percent chance of degenerating, since the ambient temperature at this point favors degeneration.

Usually, improperly placed testicles are removed or replaced in the first few years of life. This is usually not the case for people who are completely androgen resistant. Castration, and with it the removal of the testicles, does not normally take place in those affected before puberty. However, removal before the age of 20 is medically recommended. Only if the testicles are preserved for as long as possible does puberty not have to be artificially induced.

The testosterone that is formed is converted to estrogen during puberty and female development can take place naturally in this way. The supportive administration of estrogens is also often used therapeutically. This ensures a clear development into a woman. After the testicles have been removed, the administration of estradiol is often recommended, which also reduces the risk of osteoporosis and protects the hair and skin and promotes the female appearance.

In some people with complete androgen resistance, the shortened vagina will need to be widened at some point in life. Only through surgical vaginal reconstruction is it possible for some patients to have sexual intercourse without pain.

Outlook & Forecast

The prognosis for the rare, hereditary complete androgen resistance – also known as Goldberg-Maxwell-Morris syndrome – is difficult. The women affected are basically of two genders. But only one thing is recognizable from the outside.

The sexual characteristics of the opposite sex are obscured. this may pose a risk. Male sexual characteristics are therefore often surgically removed at a young age. If this does not happen, many doctors see a poorer prognosis. Testicles or male sex characteristics located inside the body are said to have a tendency to degenerate when heated above a certain tolerance limit.

Whether women with complete androgen resistance feel more masculine because of masculine gender attributes is unknown. Therefore, the prognosis for a happy life as a woman is not necessarily worse. However, the absence of a uterus is very distressing for some women. A wish to have children will not come true. Some women with complete androgen resistance suffer from hormone therapy with estrogens. However, the administration of testosterone preparations is prohibited.

Six medical centers are currently searching for better hormone therapies and treatment options for total androgen resistance. The results of this double-blind study should improve the quality of life of those affected. The medical prognosis is good these days, but the social one is not. Intersex people continue to feel discriminated against, even though a third gender has now been introduced.

prevention

Complete androgen resistance cannot be prevented because this disease is a mutation. Prevention is already difficult because there has not yet been conclusive research into which factors are relevant for this mutation. Parents-to-be can, under certain circumstances, obtain certainty about the mutation in the fetus as part of a prenatal molecular genetic diagnosis.

aftercare

In the case of this disease, the aftercare measures are very limited. In many cases, they are usually not available to the person concerned, so that the disease itself must be treated correctly in the first place. Only proper treatment and early diagnosis can prevent further symptoms and complications, so ideally the sufferer should see a doctor as soon as the first signs and symptoms of the disease appear.

Since the disease is usually caused by a tumor, the first step is to completely remove it. Even after the successful removal, the affected person should be examined regularly by a doctor in order to prevent degeneration and the recurrence of the tumors.

Likewise, this disease usually requires the intake of various medications, whereby care must be taken to ensure correct dosage and correct intake. If anything is unclear or if you have any questions, you should always consult a doctor first. The parents must monitor the intake of the medicines and the progress of the treatment properly, whereby a doctor should be consulted regularly, especially during puberty.

You can do that yourself

Patients with complete androgen resistance may have had constant medical attention from an early age, have had one or more sex reassignment surgeries, and/or need to take hormones on a regular basis. All of this requires not only great adherence to therapy, but also psychological stability. The constant feeling of “being different” can wear you down in the long run. Depression and anxiety are often the result.

These patients therefore need psychological support even more than medical care . It is also helpful to join self-help groups and thus have contact with women who have the same fate. Here, for example, the self-help group “XY-Women” with its respective sub-groups “SHG XY-Women” and “SHG Parents XY-Women” is recommended. The personal stories that are published on the website alone can reduce possible fears of the unknown. The umbrella organization “Intersexual People eV” also offers so-called peer counselling. This means that “equals advise equals”, ie those affected help other affected people. This service is free. The members of the association even offer to visit those seeking help at their place of residence and to advise them on site.

For some women, it helps to dress or make-up in a particularly feminine way so that they no longer feel different from others. It is also recommended to incorporate small feel-good islands into everyday life.

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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.