Definition
The adrenogenital syndrome is a hereditary disease caused by a genetic defect. There are different forms of the disease. Depending on the form of progression, the symptoms already exist from birth or only begin at puberty. Due to the enzyme defect, there is on the one hand a deficiency of certain hormones and on the other hand an excess of androgens, the male sex hormones. The therapy consists in the lifelong substitution of the missing hormones.
Causes
The cause of the adrenogenital syndrome is a genetic defect. This genetic defect leads to the absence of a certain enzyme. Depending on the genetic defect, different enzymes may be affected, but the symptoms are similar.
In healthy people, the affected enzymes do their work in the adrenal cortex. Three hormones /hormone groups are produced there. Cortisol, aldosterone and the male sex hormones, the androgens.
These hormones all originate from preliminary stages. The formation of the hormones from these precursors is done by enzymes, which split off certain parts of the precursors until the final product is created. In adrenogenital syndrome, there is a deficiency in one of the enzymes, so that the final stages of the hormones can no longer be produced.
So there is a lack of cortisol and/or aldosterone. Because of the deficiency, the central nervous system believes that it must stimulate the adrenal cortex more to produce enough of the hormones. But it can’t because of the enzyme deficiency.
Only the male sex hormones are still produced in sufficient quantities. However, because of the lack of the other hormones, the adrenal cortex is stimulated again and again, androgens are produced far too often. In addition, the hormone precursors for cortisol and aldosterone, which cannot be further converted into these hormones due to the lack of the enzyme, are also converted into androgens by another route. The result is a clear surplus of male sex hormones. Most often an enzyme called 21-hydroxylase is defective.
Associated symptoms
A distinction is made between the classic and the non-classic course of the adrenogenital syndrome. Depending on which form of the disease is present, the symptoms also differ. They also depend on the sex of the person affected.
A classic adrenogenital syndrome in a girl is already noticeable immediately after birth. The girl’s genitals are clearly masculinised, one speaks of virilisation or androgenisation. This can extend to the formation of a so-called pseudo-penis.
The internal sexual organs (uterus, ovaries, etc.) are normally formed. In newborn boys, the adrenogenital syndrome is initially not noticeable.
In the course of the disease, both girls and boys with the classic adrenogenital syndrome initially show significantly accelerated body growth. In the course of the disease, however, the growth stops prematurely, so that if left untreated, a dwarfism occurs. During puberty, increased pubic hair grows in girls, and a male pattern of hairs is observed, including chest hair.
This is called hirsutism. In some female patients the menstruation stops. Male patients already show a clear growth of the genitals at an early stage, although the testicles remain small.
Male patients with an adrenogenital syndrome are sterile. Approximately one in two affected patients suffers from a so-called salt loss syndrome in addition to the symptoms mentioned above. This is caused by a lack of the hormone aldosterone.
Already in the first days of life, the affected infants develop severe disorders of the salt balance with vomiting and weight loss. A salt loss syndrome is potentially life-threatening. The non-classical adrenogenital syndrome appears much later than the classical form.
Symptoms occur – if at all – only at puberty and are usually milder than in the classic form. In girls, symptoms may include increased hairiness, a deep voice, acne and menstrual disorders. In the case of a certain enzyme defect, which is one of the rarer ones, the adrenogenital syndrome can also be accompanied by high blood pressure. This should be well adjustable under an adequate therapy, otherwise an additional medicinal blood pressure therapy is necessary.
