Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

Galactosemia

Galactosemia is an inborn error of metabolism caused by the deficiency of galactokinase, galactose-1-phosphate uridyltransferase, or UDP-galactose-4'-epimerase. The most severe form of the disease, known as classical galactosemia, is caused by a deficiency of the GALT gene (Galactose-1-Phosphate Uridylyltransferase). Affected newborns are initially asymptomatic but after exposure to galactose-containing milk develop symptoms such as vomiting, diarrhea, icterus, growth failure, and hepatomegaly. Acute symptoms can be prevented with a galactose-free diet, but long-term complications still occur. Approximately half of the patients experience cognitive and/or behavioral disorders, speech difficulties, and various skeletal abnormalities such as osteopenia. Ataxia or tremor may occur in some individuals, and about 80% of affected females develop premature ovarian insufficiency (POI). Animal studies have shown that the number of oocytes is reduced in newborns. The GALT gene can already affect the ovaries during the perinatal period. Females with galactosemia may have low anti-Müllerian hormone (AMH) levels before the age of 2, and elevated follicle-stimulating hormone (FSH) levels can be detected in 10 months of age.

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//

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