Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

Multiple endocrine neoplasia type I (MEN1)

The most important cause of hereditary prolactinoma is the multiple endocrine neoplasia type I (MEN1) that is inherited as an autosomal dominant trait. The prevalence of MEN1 is around 1:30.000 and its three major manifestations are the following: primary hyperparathyroidism (90-100%), duodenopancreatic neuroendocrine tumors (30-80%, gastrinoma, insulinoma, hormonally inactive pancreatic neuroendocrine tumor) and pituitary adenomas (15-50 %). Like sporadic pituitary adenomas, most MEN1-associated pituitary tumors are hormonally inactive, as well, and among hormone-secreting adenomas, prolactin secreting are the most frequent. In comparison to their sporadic counterparts, MEN1-associated pituitary adenomas are larger and of more aggressive behavior. A so-called Burin variant has been described in MEN1 in four large MEN1 families originating from the Burin-peninsula in Newfoundland, where prolactinoma was very frequent.

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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