Specialized in metabolic disorders is a specialist who calls himself an endocrinologist, endocrinology is a subject of internal medicine. The endocrinologist makes a tentative diagnosis on the basis of the symptoms described and can then make the diagnosis using a special blood test. In this examination, a certain hormone precursor can be detected in significantly elevated concentrations.
The adrenogenital syndrome is a so-called hereditary disease. This means that it can be passed on from the affected person to their descendants. The disease is inherited autosomal recessively. For example, if one parent suffers from an adrenogenital syndrome and the other partner carries one of two copies of the defective gene, there is a 50% risk that the child will also suffer from an adrenogenital syndrome.
The adrenogenital syndrome and its symptoms are generally well treatable, but the disease is not curable. Those affected need hormone replacement therapy. The hormone cortisol, which cannot be produced sufficiently due to the enzyme deficiency, must be taken in tablet form.
Cortisol is also called stress hormone. This means that it increases significantly in stressful situations. However, as the hormone cannot be produced sufficiently in the body but is supplied in tablet form, care must be taken to increase the dose in potential stress situations.
These include operations, infections and heavy physical exertion. If a salt loss syndrome occurs at the same time, the hormone aldosterone must also be taken in tablet form. However, in addition to the hormone replacement, the psychological strain caused by the masculinisation of the female affected should not be underestimated. For patients suffering from the classic adrenogenital syndrome and who have already been born with masculinized genitals, surgical interventions in the sense of plastic surgery can help. In order to further avoid masculinization (hair, acne, deep voice), hormones can be taken which act as an opponent of the male sex hormones which are present in excess (antiandrogens).
The adrenogenital syndrome is a disease that is not curable. It means that it can be treated with medication but it never goes away. The medication must be taken for life.
Desire to have children with Adrenogenital Syndrome
The adrenogenital syndrome is a hereditary disease. There is therefore a risk of passing the disease on to the offspring. Patients who suffer from the disease and wish to have a child should consult a specialized clinic.
However, it should also be remembered that women and men with an adrenogenital syndrome can often be infertile. Women with the non-classical form of the adrenogenital syndrome have relatively good chances of becoming pregnant, but their fertility is also often limited. Women with the classic form often have no chance of becoming pregnant. However, in order to discuss and diagnose this individually, a specialised medical centre should be consulted.