Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

Bloom syndrome

The BLM gene, formerly known as RECQL3 gene (Bloom Syndrome RecQ Like Helicase), is involved in the synthesis of the RecQ helicase protein family, which plays a main role in various DNA repair processes. Mutations in the BLM gene lead to Bloom syndrome and can also contribute to the development of POI. The syndrome is an autosomal recessive disorder. Recurrent infections, mainly sepsis, meningitis, pneumonia, and gastroenteritis may occur due to immune deficiency. In infants, butterfly erythema on the face can be observed as a result of photosensitivity, which worsens with exposure to sunlight. Later in life, skin rashes may also appear on the hands and arms. There is an increased risk of developing basal cell carcinoma and squamous cell carcinoma. Eye abnormalities include optic nerve hypoplasia, retinopathy, and retinoblastoma. Insulin resistance and a higher risk of tumor development are common in individuals with Bloom syndrome. Microcephaly, elongated, narrow, hypoplastic face, high-pitched voice, and short stature are characteristic features. Reduced fertility is a consequence of Bloom syndrome. In women, delayed menstruation and early menopause are observed in later life. Successful pregnancies have been reported, but preterm birth and low birth weight infants have been observed in these cases. The syndrome always results in sterility in males.

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//

BibTeX EndNote Mendeley Zotero