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Genetic background of gynecological diseases
Rare gynecological diseases with genetic origin
Hyperinsulinemia
Hyperinsulinemia in PCOS has been demonstrated to stimulate ovarian androgen production. Research by Moghetti et al. has shown that insulin increases both adrenal androgen production and adrenal sensitivity to ACTH. The demonstration of insulin resistance is not part of the diagnostic set of criteria for PCOS, but it is detectable in a significant proportion (50-70%) of patients, suggesting a pathological role. The insulin resistance observed in PCOS is tissue specific: while adipose tissue and skeletal muscle become insulin resistant, certain organs (ovaries, adrenal glands, liver) retain their sensitivity to insulin. In contrast to non-insulin-dependent diabetes mellitus, where the molecular mechanisms of insulin resistance can be diverse, an intrinsic genetic disorder independent of the development of NIDDM has been identified as the underlying cause of insulin resistance in PCOS. This disorder results in serine phosphorylation of the insulin receptor (IR) encoded by the INSR (Insulin Receptor) gene and the IRS-1 (Insulin Receptor Substrate 1) signaling protein encoded by the IRS1 (Insulin Receptor Substrate 1) gene, and inhibition of signal transduction, causing insulin resistance and consequently hyperinsulinemia. Serine phosphorylation of the insulin receptor has been identified in 50% of women with PCOS, and variants in its gene have also been associated with the occurrence of PCOS.
Tartalomjegyzék
- Genetic background of gynecological diseases • Rare gynecological diseases with genetic origin
- COPYRIGHT PAGE
- INTRODUCTION
- GENETIC FACTORS INVOLVED IN GENITAL DEVELOPMENT • written by: Dr. Artúr Beke
- CLASSIFICATION OF DEVELOPMENTAL ANOMALIES OF THE FEMALE GENITAL ORGANS • written by: Dr. Artúr Beke and Dr. Aténé Simonyi
- DISEASES ASSOCIATED WITH DEVELOPMENTAL DISORDERS OF THE MÜLLERIAN DUCT • written by: Dr. Aténé Simonyi and Dr. Artúr Beke
- Acrorenal-mandibular syndrome
- Apert syndrome
- Bardet-Biedl syndrome
- Beckwith-Wiedemann syndrome
- Cornelia de Lange syndrome
- Fraser syndrome
- Hydrolethalus syndrome (HLS)
- Jarcho-Levin syndrome
- Meckel syndrome
- Popliteal pterygium syndrome
- Roberts syndrome
- Hand-foot-genital syndrome
- TAR syndrome
- Herlyn-Werner-Wunderlich syndrome
- Müllerian duct anomalies-limb anomalies syndrome
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- 16q24.1 microdeletion syndrome
- RECOMMENDED LITERATURE
- Acrorenal-mandibular syndrome
- GENETICS OF SEX ENDOCRINE FUNCTION • written by: Dr. Artúr Beke
- DISEASES AND CONDITIONS ASSOCIATED WITH DISORDERS OF SEX DEVELOPMENT. Classification of pathologies associated with disorders of sex development • written by: Dr. Artúr Beke
- Disorder of sex development with sex chromosome abnormalities (DSD with sex chromosome abnormality) • written by: Dr. Irén Haltrich and Dr. Anna Lengyel
- Disorder of sex development with 46,XX chromosomes (46,XX DSD)
- Genetic background of diseases associated with ovarian development disorders • written by: Dr. Sára Tóth
- Fetal causes of androgenic predominance • written by: Dr. Attila Patócs
- Fetoplacental and maternal causes of androgenic predominance • written by: Dr. Artúr Beke and Dr. Klára Farkas
- Other 46,XX disorders of sex development • written by: Dr. Klára Farkas and Olívia Szepesi
- Disorders of sex development with 46,XY chromosomes (46,XY DSD)
- Genetic background of diseases associated with testicular developmental abnormalities • written by: Dr. Sára Tóth
- Disorders of testosterone biosynthesis • written by: Dr. Péter Igaz
- Disorders of androgen receptor/action • written by: Dr. Péter Igaz
- Other 46,XY disorders of sex development • written by: Dr. Klára Farkas and Veronika Donka
- GENETIC CHARACTERISTICS OF EXTRAGENITAL ENDOCRINE PATHOLOGIES/DISORDERS UNDERLYING GYNECOLOGICAL DISEASES
- MOLECULAR GENETICS OF POLYCYSTIC OVARY SYNDROME • written by: Dr. Attila Patócs and Dr. Vince Kornél Grolmusz
- GENETIC BACKGROUND OF PREMATURE OVARIAN INSUFFICIENCY
- Significance and cytogenetic causes of premature ovarian insufficiency • written by: Dr. Artúr Beke
- Premature ovarian insufficiency and the role of the FMR1 gene • written by: Dr. Artúr Beke
- Other monogenic causes of premature ovarian insufficiency • written by: Dr. Henriett Pikó
- Association of premature ovarian insufficiency with syndromes • written by: Dr. Klára Farkas, Olívia Szepesi, Veronika Donka and Dr. Artúr Beke
- Ataxia-telangiectasia (Louis–Bar syndrome)
- Acromesomelic chondrodysplasia
- Autoimmune polyendocrine syndrome
- Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
- Bloom syndrome
- Denys-Drash syndrome and Frasier syndrome
- Dilated cardiomyopathy, muscular dystrophy, lipodystrophy, progeria, mandibulo-acral dysplasia
- Galactosemia
- Jaeken syndrome
- Langer mesomelic dysplasia (LMD) and Leri-Weill dyschondrosteosis (LWD)
- Leukoencephalopathy, ovarioleukodystrophy
- Lipoid congenital adrenal hyperplasia
- Loeys-Dietz syndrome
- Multiple endocrine neoplasia type 4 (MEN4)
- Nijmegen breakage syndrome
- Perrault syndrome
- Progressive external ophthalmoplegia
- Proximal symphalangism
- Rothmund-Thomson syndrome
- Von Hippel-Lindau disease
- Werner syndrome
- RECOMMENDED LITERATURE
- Ataxia-telangiectasia (Louis–Bar syndrome)
- GENETIC BACKGROUND OF HABITUAL MISCARRIAGE
- Molecular genetic abnormalities underlying habitual abortion • written by: Dr. István Balogh
- Detectable cytogenetic differences in the background of habitual miscarriage • written by: Dr. Henriett Pikó
- GENETIC TESTING FOR OTHER GYNECOLOGICAL CONDITIONS • written by: Dr. Artúr Beke
- GENETICS OF GYNECOLOGICAL MALIGNANCIES • written by: Dr. Henriett Butz and Dr. Artúr Beke
- Hereditary breast and ovarian cancer syndrome
- Hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) and gynecological tumors
- Peutz-Jeghers syndrome and gynecological tumors
- Li-Fraumeni syndrome
- Cowden syndrome
- Reed syndrome - hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC)
- RECOMMENDED LITERATURE
- LIST OF ABBREVIATIONS
- AUTHORS OF THE BOOK
Kiadó: Akadémiai Kiadó
Online megjelenés éve: 2024
ISBN: 978 963 664 024 8
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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