Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

Werner syndrome

The WRN gene (WRN RecQ Like Helicase, formerly known as RECQL2 or Werner Syndrome RecQ Like Helicase) is involved in the synthesis of the RecQ helicase protein family. It plays a role in DNA repair processes and homologous recombination. Mutations in the WRN gene cause Werner syndrome, also known as adult progeria. The syndrome is an autosomal recessive disorder, characterized by accelerated aging that typically begins in the thirties or forties, bilateral cataracts, hair loss, graying of hair, scleroderma-like skin changes, soft tissue calcification, a characteristic "bird-like" face, and short stature. There is an increased risk of developing various malignancies, including follicular thyroid carcinoma, malignant melanoma, meningioma, soft tissue sarcoma, primary bone tumors, and leukemia. Hypertension, atherosclerosis, osteoporosis, hypogonadism, and sterility can also occur.

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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