Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

Disorders of androgen receptor/action

Alterations of the AR (Androgen Receptor) gene harbored on chromosome X can be associated with a wide array of clinical symptoms. Several clinical phenotypes are known ranging from complete androgen insensitivity to androgen resistance of variable severity. Although patients affected with androgen insensitivity are males concerning their chromosomal and gonadal sex, in its complete form a female phenotype is observed. Patients are driven to gynecological consultations due to the lack of menstrual cycles, and gynecological care is warranted. The grade of androgen insensitivity is variable, ranging from the most severe full forms to mild forms resulting only in gynecomastia during puberty in boys or sterility in adults. Partial androgen insensitivity is a major cause of indeterminate external genitalia in the newborn. Hypospadias is common, but more severe forms such as perineoscrotal hypospadias, bifid scrotum or micropenis might also occur. Partial androgen insensitivity does not cause symptoms in females.

Genetic background of gynecological diseases

Tartalomjegyzék

Kiadó: Akadémiai Kiadó

Online megjelenés éve: 2024

ISBN: 978 963 664 024 8

Orvostudomány Idegen nyelvű

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//

BibTeX EndNote Mendeley Zotero