Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

Clinical characteristics of Turner syndrome

Suggestive features in the intrauterine period include increased nuchal translucency (hygroma colli) and generalized lymphedema. Newborns usually present with edema of the hands and the feet, low posterior hairline and low-set ears. The growth restriction begins prenatally, and tends to last until adulthood; the growth pattern is atypical as well: growth acceleration in adolescence is absent, and the completion of growth is protracted. Average height of TS patients is ~2.5-~3.5 standard deviations lower than that of healthy females. Other commonly seen symptoms are shield chest, wide intermammillary distance, short 4th metacarpals. Congenital heart defects and renal anomalies are likewise frequent associations. Ovaries do not develop properly and are instead replaced by streak gonads. In the absence of hormone supplementation secondary sex characteristics remain underdeveloped, resulting in no breast development, infantile uterus, and primary amenorrhea. TS patients are infertile with the exception of certain mosaic or partial X deletion cases. Intelligence is usually normal, however, difficulties with visual-spatial perception, weaker mathematical abilities and learning difficulties are more likely, non-verbal are particularly problematic areas. Patients can have difficulties with social interactions and behavior, and often benefit from psychological intervention. The clinical characteristics of TS are summarized in Table 11.

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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