Androgen resistance

from Wikipedia, the free encyclopedia

The androgen resistance is a condition in which due to a mutation in the genetic material of the male human androgen receptor inadequately functioning , that is, genetically this is an individual man (XY sex chromosomes ), the sexual organs are male differentiated, and there are also Androgens formed; however, the place of action of these hormones , the androgen receptor , works insufficiently or not at all.

There is a common division of androgen resistance into 3 subgroups, which describes the residual function of the androgen receptors present:

  1. minimal androgen resistance ( Mild androgen insensitivity syndrome , MAIS),
  2. partial androgen insensitivity ( partial androgen insensitivity syndrome , PAIS), the so-called Reifenstein- syndrome
  3. complete androgen insensitivity ( Complete androgen insensitivity syndrome , CAIS), the syndrome of testicular feminization

Minimal androgen resistance

This stage of androgen resistance is characterized by a normal male appearance. Only reduced beard and body hair , androgen deficiency symptoms (reduced androgen receptor activity) and possibly gynecomastia can be conspicuous and indicate the disease. The spermatogenesis may be affected. Most of these people are conspicuous by an unfulfilled desire to have children . A hormonal therapy is not usually necessary; the infertility is countered by assisted fertilization procedures (" artificial insemination ", IVF ).

Medically , MAIS can be done through a diagnosis of the androgen receptor . Hormone levels like LH and FSH can lead to the diagnosis. The psychological symptoms, which are very similar to the disease ADHD-PI, must also be distinguished.

Partial androgen resistance - Reifenstein syndrome / Gilbert-Dreyfus syndrome

There is no uniform clinical picture with this characteristic. Symptoms such as the above-described gynecomastia , hypospadias , a small penis ( micropenis ), azoospermia and / or changes in the position of the testicles (e.g. cryptorchidism or inguinal testicles ) are signs of the disease and point the way to diagnosis. However, only a DNA analysis of the androgen receptor can provide final certainty .

Complete androgen resistance - testicular feminization syndrome

The complete androgen insensitivity (testicular feminization) is the maximum expression of this disease. The individual completely lacks testosterone receptor activity; the development of male sexual characteristics (penis, hair type, etc.) is completely absent, the people grow up as girls . They usually become noticeable during puberty , when the onset of secondary body hair and menarche do not occur. The examinations that then arise then show a short vagina , an absence of the uterus , ovaries and fallopian tubes as well as a male (XY) karyotype in the genetic examination in the case of normal female external genitals . Furthermore, testes are present, which, as with partial androgen resistance, are changed in position.

So far there is no causal therapy for complete androgen resistance. The girl's testicles should be left in place until after puberty. This ensures that the body is adequately supplied with estrogens (formed from testosterone ) , which are necessary for the development of a normal female appearance. However, these are usually removed after puberty, as their location increases the risk of malignant degeneration ( cancer development ). After removal, however, an estrogen substitution must be carried out. The women cannot get pregnant because of the lack of ovaries.

Since the patients experience themselves as women and are brought up in this way, information about the disease is a contentious issue . In fact, the woman's right to find the truth about her infertility, on the one hand, and the problem of a serious identity crisis if the woman learns that genetically “actually to be a man” are in a problematic context. In the scientific literature there are demands for continuous counseling and early education of both the parents and the child, as well as a requirement to take into account the individuality of the child concerned and possible signs of role insecurity or the onset of gender dysphoria .

See also

literature

  • Michael Zitzmann, Eberhard Nieschlag: The CAG repeat polymorphism within the androgen receptor gene and maleness . In: International Journal of Andrology . tape 26 , no. 2 , April 2003, ISSN  0105-6263 , p. 76-83 , PMID 12641825 .

Web links

Individual evidence

  1. ↑ Mild androgen resistance syndrome in the English language Wikipedia
  2. ↑ Attention deficit hyperactivity disorder predominantly inattentive (ADHD-PI) in the English language Wikipedia
  3. ↑ Hartmut AG Bosinski: Psychosexual problems with intersex syndromes . In: Sexuologie - magazine for sexual medicine, sex therapy and sexology . tape 12 , no. January 1 , 2005 ( [1] [PDF]).