Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

Multiple endocrine neoplasia type 4 (MEN4)

Multiple endocrine neoplasia type 4 (MEN4) inherited as an autosomal dominant disorder. It is characterized by a constellation of symptoms caused by mutations in the CDKN1B gene (Cyclin Dependent Kinase inhibitor 1B), which is a tumor suppressor gene involved in regulating the cell cycle. This gene also plays a significant role in premature ovarian failure. Clinical presentation is similar to MEN1 syndrome; however, mutations in the MEN1 gene (Menin 1) are not identifiable, and symptoms manifest later in life. The phenotypic spectrum can vary. Clinical manifestations include pituitary tumors, acromegaly, Cushing's disease, primary hyperparathyroidism (PHPT), adrenal tumors, gastrinomas, as well as neuroendocrine tumors in the pancreas, lung, bronchus, and stomach. Papillary thyroid carcinoma has been reported in some cases. CDKN1B mutations have also been identified in neuroendocrine tumors of the small intestine, lymphomas, and breast tumors.

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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