Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

TAR syndrome

TAR syndrome (Thrombocytopenia-absent radius syndrome) is an autosomal recessive inherited disorder. It is caused by the complex heterozygosity of the null allele and a hypomorphic allele of the RBM8A gene (RNA Binding Motif Protein 8A). However, because null alleles are rare (and often occur de novo in the subject) and RBM8A hypomorphic alleles are common, the inheritance of TAR syndrome has many features different from autosomal recessive disorders, as the number of siblings affected is low, but parents appear to pass the condition on to their child, and second and third degree relatives may be affected. Symptoms of the disease include bilateral absence of the radius with the presence of thumbs and thrombocytopenia, which is usually transient. Thrombocytopenia may be congenital but may also develop in the first weeks or months of life, usually with thrombocytopenic episodes decreasing with age. Allergy to cow's milk is common and has been associated with worsening thrombocytopenia. Other abnormalities of the skeleton (upper and lower limbs, ribs and vertebrae), heart and urinary tract (such as renal abnormalities and abnormalities of the uterus, cervix and upper part of the vagina) may 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//

BibTeX EndNote Mendeley Zotero