Adrenogenital syndrome is referred to as "congenital androgenic disorder associated with enzyme deficiency" in the WHO catalog under number E25.0. It is caused by disruption of the synthesis of hormones in the adrenal cortex and leads to a deficiency supply of the body with cortisol.

What is the adrenogenital syndrome?

The adrenogenital syndrome is caused by disturbances in the synthesis of hormones in the adrenal cortex and leads to a deficiency supply of the body with cortisol.

The adrenogenital syndrome is characterized by the fact that the interaction between adrenal cortex, thyroid and the hypothalamus and the pituitary gland is disturbed. All four are involved in the delivery of hormones in the human body.

In the main, the hormones cortisol and aldosterone are affected by the dysregulation. For example, if aldosterone is missing, it can also be associated with significant salt loss. Another hallmark of the adrenogenital syndrome is found in adolescents. In male patients, the genital organs develop earlier than normal and female patients have clear male features.

Disorders of cortisol levels cause sleep disorders and severely limit performance throughout the day. This can lead to chronic fatigue syndrome.

causes

Depending on which enzyme is actually affected, the adrenogenital syndrome can be categorized into five types by cause.

In type 1, the production of StAR protein is impaired. A subspecies has disorders in cholesterol monooxygenase, but so far could only be detected in a single case.

In type 2, 3beta-hydroxysteroid dehydrogenase is disturbed. With a significant frequency occurs the type 3, which is manifested by a disorder of 21-hydroxylase. The second place in the frequency is the type 4, in which serologically detectable changes in the 11-beta-hydroxylase.

The 17alpha hydroxylase is disturbed in type 5, which is rarely diagnosed. Regional differences can also be observed. The type 1 adrenogenital syndrome, for example, is very rare in Europe, while it is found in South Korea and Japan with a significant accumulation.

Symptoms, complaints & signs

The classical adrenogenital syndrome manifests itself by a prenatal masculinization of the external genitalia in persons of the female sex. In males, the main symptom is salt loss. Depending on whether it is a form with or without salt loss, it can lead to failure or a shock. In the worst case, the child falls into a coma.

In both sexes, over the course of childhood, excessive male hormones are formed, resulting in growth, acne, premature voice break and genital hair, absence of menstruation and other medical conditions. Untreated children are small in height and often suffer from overweight, metabolic changes and infertility in adulthood.

There is also an increased risk of cardiovascular disease and other complications. Late onset AGS is not usually associated with a prenatal masculinization. However, it can also come here to symptoms such as premature pubic hair and acne. Affected persons often suffer from growth and are usually infertile.

Furthermore, the adrenogenital syndrome can be detected by external malformations or malformations. Thus, in some cases, the genitals are excessively small or large. In girls, the growth of the breasts may be disturbed. Other symptoms depend on the particular form of AGS.

Diagnosis & History

For diagnosis, a so-called blood gas analysis is carried out as the first means according to a general anamnesis. The ratio of bases and acids in the blood is tested. A determination of the electrolytes is also carried out to determine how far the salt loss has progressed in the metabolism.

In a second step, blood and urine examinations will be performed in parallel to elicit evidence of a dysfunctional supply of 17-hydroxy-progesterone. The detection of changes in cortisol levels can now also be performed by saliva tests, and can also be found changes throughout the day, indicating an adrenal insufficiency.

Another diagnostic tool is the ACTH test. In babies, this test is one of the standard tests performed in Germany immediately after birth. In the unborn child, a diagnosis can be done on examinations of the amniotic fluid.

complications

First and foremost, the patient suffers from strong androgenisation in the adrenogenital syndrome. This is a huge problem for women in particular, and can lead to severe disturbances of self-esteem and inferiority complexes. Often it comes to the training of a pseudo penis.

The sufferers suffer from tiredness and sleep disorders. Likewise, they are more affected by infectious diseases and become ill more often. The body grows relatively fast and strong. The masculinization is especially in childhood to bullying and teasing, which can lead to severe mental illness and depression.

Often, a mental treatment of the child and the parents is necessary in order to cope with this syndrome. Unfortunately, the syndrome can not be cured causally, so the treatment aims only at limiting the symptoms. In particular, the missing hormones are replaced to counteract the syndrome.

Because the missing hormones are not produced by the body at all, the patient has to take them most of his life. There are no further complications. If the disease is still diagnosed during pregnancy, the mother can also take medication. Life expectancy is not reduced. Also the development of the child usually takes place.

When should you go to the doctor?

Women with adrenogenital syndrome should seek advice from a human geneticist if they want to have children. This performs a DNA analysis and helps to assess the risk of disease for the unborn child. If this is increased due to the heterozygosity of the partner, a prenatal therapy is performed. Mannerlichungsungsscheinungen in girls are thereby prevented.

In boys, the symptoms appear inconspicuous and usually only when a life-threatening salt loss crisis occurs. If affected children appear without participation, vomiting frequently or falling into a coma, this should be classified as an emergency. This requires immediate action. The further care and drug therapy is provided by the child endocrinologist.

An adrenal crisis can also occur in adults. Symptoms such as high blood pressure, nausea, vomiting or shock require immediate medical attention.

Women should consult a gynecologist if they have an unfulfilled wish to have children or if they do not have menstruation. In addition, if you develop signs of virilization, the right contact person is an internist endocrinologist. If a late-onset AGS is suspected, the physician will perform various tests.

Increased sweating, pronounced acne and a slight weight gain are no cause for concern. These signs may be a normal consequence of puberty or hormonal imbalance.

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Treatment & Therapy

A treatment in the sense of remedying the cause is not possible for the adrenogenital syndrome, as it is a congenital genetic defect. There is therefore a symptomatic treatment, which consists in a replacement of the missing hormones.

This must be life-long, but it should be noted with regard to the dosage that it must be temporarily increased in stressful situations. In the main, preparations with fludrocortisone and mineral corticosteroids are used.

These hormone replacement therapies should be started as soon as possible. This has led to the development of technologies that can provide corticoids to girls in the womb.

Outlook & Forecast

As a rule, this syndrome causes a very strong masculinization of the patient. In the course of the disease, a pseudopenis may develop in the woman as well. The body grows relatively fast and puberty occurs early. In most cases, sufferers also suffer from mental health problems and partly from depression. In children, teasing and bullying can occur.

It also comes to a strong tiredness, which is caused by sleep disorders. The patient is also very susceptible to various infections and illnesses and suffers more often from inflammation. The quality of life of the person affected is greatly limited by the syndrome.

The treatment of this syndrome occurs with the help of hormone therapy, which usually leads to success. Further complications and complaints do not occur. In the process, the patient can be supplied with the necessary hormones while still in the womb so that the symptoms after birth are severely limited. The syndrome can be completely restricted in the further course of treatment so that there are no further complaints for the patient.

prevention

Because a genetic defect has been identified as the cause, prevention in the narrower sense is not possible. But with some measures, the effects can be alleviated. The consequent avoidance of stress plays an important role here.

A considerable part of the nutrition can also contribute to the relief of the metabolism. One should know that some of the WHO's advice on healthy eating is completely turned on its head.

Particularly interesting here is the Logi method of the grant, which has been developed by Harvard University. Instead of three meals, you should distribute your food intake evenly throughout the day. Thus, daytime fluctuations in the cortisol budget are compensated.

aftercare

As a rule, the patient has no special measures and options for follow-up care with this syndrome. The person concerned is primarily dependent on the early detection and diagnosis of these complaints in order to prevent further complaints or complications. It also can not come to a self-healing, so that in this disease in the foreground early detection stands.

If the affected person has a desire to have children, genetic counseling may also be provided to prevent the inheritance of the syndrome to the descendants. Because it is a hereditary disease, no complete and no causal treatment can be performed. Perhaps this syndrome also reduces the life expectancy of the person affected.

The treatment itself usually takes place through the administration of medication. The affected person should pay attention to a correct dosage and also to a regular intake. In case of questions or ambiguities, a doctor should always be consulted first. Further measures of aftercare are not required and not possible. In children, especially the parents must pay attention to the correct intake of the drugs.

You can do that yourself

People who suffer from adrenogenital syndrome need to be treated for a lifetime. In everyday life, an active lifestyle and a customized diet is recommended. The physician will recommend a consistent diet with enough vitamins and minerals. In addition, the patient must absorb enough fluid to minimize the risk of a medical emergency.

AGS patients must also carry an emergency card. In the event of a medical emergency, first responders can call emergency services immediately and provide first aid. The emergency card must also be carried after the completion of the drug treatment. Since the medication in AGS often has to be continued for a lifetime, attention should be paid to possible side effects and interactions. Especially in the first weeks and months after the start of treatment, it is important to recognize complications and to adjust the medication.

After a few months, the medication should be optimally tailored to the symptom picture, which minimizes hormonal complaints and reduces the risk of a medical emergency. However, should unusual symptoms occur, it is best to contact the emergency medical service or an emergency doctor immediately.

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