Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

Complete androgen insensitivity (CAIS) (Morris syndrome)

The complete lack of testosterone action characteristic for Complete Androgen Insensitivity Syndrome, abbreviated as CAIS) results in a fully female phenotype despite 46,XY karyotype and male gonads. Patients are characterized by normal breast development, hairless body and lack of inner female genital organs. The syndrome’s previous name is testicular feminization, or Morris syndrome. Complete androgen insensitivity is a typical form of the disorders of sexual differentiation being extremely rare with a prevalence between 1:20000-1:100.000. The uterus is absent, but there is a short vagina. Affected patients are taller than 46,XX women in average, and among the top models there are some affected. In the newborn age, inguinal hernia or swollen majora labia can raise its suspicion, as both are due to ectopic testicles.

Genetic background of gynecological diseases

Tartalomjegyzék

Kiadó: Akadémiai Kiadó

Online megjelenés éve: 2024

ISBN: 978 963 664 024 8

Orvostudomány

Our book was written with the intention of filling a gap. It is the work of specialists - university lecturers, researchers, clinicians - who come across the described symptoms in their daily practice.

Many previously published publications deal with the gynecological pathologies discussed in the volume, but from the perspective of genetics as an etiological factor, focusing on the genetic background of pathological conditions and women's diseases, no book has yet been published. Nowadays, science is developing rapidly, and almost all diseases are subjected to genetic testing during research. For this reason, only those pathologies will be presented for which the tests so far have clearly confirmed the genetic background, that is, those pathologies for which the possibility of a genetic cause has arisen, but cannot yet be clearly proven, do not form the material of the book.

We recommend the book primarily to health professionals, geneticists, obstetricians and gynecologists, pedoatric gynecologists, and pediatricians, and those preparing for special exams. Medical students and midwifery students interested in the topic can find important information in it, and it can also be useful for "non-specialists".

Hivatkozás: https://mersz.hu/beke-genetic-background-of-gynecological-diseases//

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