Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

Glucocorticoid receptor mutation

Glucocorticoid resistance is a rare familial or sporadic disorder characterized by increased secretion of cortisol, but no clinical evidence of hypercortisolism is present, but androgen and mineralocorticoid predominance is detectable. Mutations in the NR3C1 gene (Nuclear Receptor Subfamily 3 Group C Member 1, formerly known as: Glucocorticoid Receptor) result in inadequate glucocorticoid response in target tissues, and a compensatory increase in circulating cortisol and ACTH concentrations. Adequate compensation can be achieved by increased cortisol concentrations, but excessive ACTH secretion often causes androgenic and/or mineralocorticoid overproduction and an increase in their activity. The clinical spectrum of the disorder is wide: from complete asymptomatic to severe hyperandrogenism, fatigue and/or hypertension may be observed, which may be accompanied by electrolyte imbalance. Glucocorticoid resistance may be the underlying cause in cases of ambiguous genitalia in female infants with high cortisol levels at baseline and after dexamethasone treatment.

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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