Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

Ataxia-telangiectasia (Louis–Bar syndrome)

The development of ataxia-telangiectasia (Louis-Bar syndrome) is caused by mutations in the ATM gene (ATM Serine/Threonine Kinase, formerly known as Ataxia-Telangiectasia Mutated), which plays a role in DNA repair. Encoded protein is a checkpoint kinase that mediates cellular responses to DNA damage. This syndrome is an autosomal recessive inherited manner and is associated with congenital immunodeficiency. Recurrent respiratory infections occur around 1-2 years of age. Neurological abnormalities primarily manifest as movement disorders (chorea, unsteady gait, ocular movement disorders, hypotonic muscles), inadequate speech development, and mental retardation. Characteristic skin manifestations may include atrophic skin, café-au-lait spots, and hyper- or hypopigmented areas. The onset of secondary sexual characteristics is delayed. Patients have increased photosensitivity and are at a high risk of developing certain tumors (breast tumor, leukemia, lymphoma).

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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