Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

Leukoencephalopathy, ovarioleukodystrophy

Leukoencephalopathy, also known as childhood ataxia with central nervous system hypomyelination (Vanishing White Matter Disease), caused by mutations in the EIF2B genes. The EIF2B2, EIF2B4, and EIF2B5 genes (Eukaryotic Translation Initiation Factor 2B Subunit Beta, Delta, Epsilon) may also be causative factors in premature ovarian insufficiency (POI). The presence of both leukoencephalopathy and POI phenotypes resulting from EIF2B gene mutations is referred to as ovarioleukodystrophy, although cases of ovarioleukodystrophy without EIF2B gene mutations have also been reported. Symptoms of the condition include deteriorating neurological status, cerebellar ataxia, involvement of the motor system, vision loss, vomiting, and coma, typically occurring in early childhood.

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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