Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

Carney-complex

Pituitary adenoma can also occur in Carney-complex, which is an extremely rare complex tumor syndrome (around 1000 cases worldwide). Carney-complex is most often caused by mutations in the PRKAR1A gene (Protein Kinase cAMP-Dependent Type I Regulatory Subunit Alpha, formerly called: Carney Complex type 1) coding for a regulatory subunit of protein kinase A. Its clinical picture includes spotted skin pigmentation, myxomas (atrial and skin), endocrine tumors and schwannomas. Among endocrine tumors, bilateral primary pigmented nodular adrenal disease resulting in Cushing syndrome, pituitary tumors leading to acromegaly and hyperprolactinemia, testicular tumors (large cell calcifying Sertoli cell tumor), thyroid adenomas and carcinomas, and ovarian cysts have been described (18. Table).

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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