Tartalomjegyzék

• Genetic background of gynecological diseases • Rare gynecological diseases with genetic origin
• COPYRIGHT PAGE
• INTRODUCTION
• chevron_rightGENETIC FACTORS INVOLVED IN GENITAL DEVELOPMENT • written by: Dr. Artúr Beke
  • RECOMMENDED LITERATURE
• chevron_rightCLASSIFICATION OF DEVELOPMENTAL ANOMALIES OF THE FEMALE GENITAL ORGANS • written by: Dr. Artúr Beke and Dr. Aténé Simonyi
  • Cases of uterine dysmorphia
  • Cases with a midline absorption defect
  • Cases with fusion defects of the Müllerian ducts
  • Unilateral malformation of the Müllerian duct
  • Bilateral malformation of the Müllerian duct
  • RECOMMENDED LITERATURE
• chevron_rightDISEASES 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
• chevron_rightGENETICS OF SEX ENDOCRINE FUNCTION • written by: Dr. Artúr Beke
  • The role of the hypothalamo-adenohypophyseal system
  • Hormone production in the adrenal cortex
  • Ovarian hormone production
  • Testicular hormone production
  • RECOMMENDED LITERATURE
• chevron_rightDISEASES AND CONDITIONS ASSOCIATED WITH DISORDERS OF SEX DEVELOPMENT. Classification of pathologies associated with disorders of sex development • written by: Dr. Artúr Beke
  • chevron_rightDisorder of sex development with sex chromosome abnormalities (DSD with sex chromosome abnormality) • written by: Dr. Irén Haltrich and Dr. Anna Lengyel
    • chevron_right45,X – clinical characteristics and genetic diagnosis of Turner syndrome
      • Clinical characteristics of Turner syndrome
      • Genotypes associated with Turner syndrome
      • Mosaic Turner syndrome
      • Genetic diagnostics
      • Molecular genetics of Turner syndrome
      • RECOMMENDED LITERATURE
    • chevron_right45,X/46,XY - mixed gonadal dysgenesis
      • Clinical characteristics
      • Genotypes
      • Malignancy risk of the 45,X/46,XY karyotype
      • Genetic diagnosis
      • RECOMMENDED LITERATURE
    • chevron_right46,XX/46,XY chimerism - clinical characteristics and genetic diagnosis
      • Clinical characteristics of chimerism
      • Genotype
      • Risks
      • Genetic diagnostics
      • RECOMMENDED LITERATURE
    • chevron_right47,XXY – Klinefelter syndrome - clinical and genetic examination
      • Clinical characteristics of Klinefelter syndrome
      • Genotype of Klinefelter syndrome
      • Risks related to Klinefelter syndrome
      • Genetic diagnostics
      • RECOMMENDED LITERATURE
  • chevron_rightDisorder of sex development with 46,XX chromosomes (46,XX DSD)
    • chevron_rightGenetic background of diseases associated with ovarian development disorders • written by: Dr. Sára Tóth
      • 46,XX ovotesticular DSD and 46,XX testicular DSD
      • 46,XX gonadal dysgenesis
      • RECOMMENDED LITERATURE
    • chevron_rightFetal causes of androgenic predominance • written by: Dr. Attila Patócs
      • Forms of congenital adrenal hyperplasia (CAH) and their gynecological implications
      • Glucocorticoid receptor mutation
      • RECOMMENDED LITERATURE:
    • chevron_rightFetoplacental and maternal causes of androgenic predominance • written by: Dr. Artúr Beke and Dr. Klára Farkas
      • Fetoplacental causes
      • Maternal causes
      • RECOMMENDED LITERATURE
    • chevron_rightOther 46,XX disorders of sex development • written by: Dr. Klára Farkas and Olívia Szepesi
      • Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome)
      • Herlyn-Werner-Wunderlich syndrome
      • RECOMMENDED LITERATURE
  • chevron_rightDisorders of sex development with 46,XY chromosomes (46,XY DSD)
    • chevron_rightGenetic background of diseases associated with testicular developmental abnormalities • written by: Dr. Sára Tóth
      • 46,XY gonadal dysgenesis and 46,XY ovotesticular DSD
      • Gonadal dysgenesis associated with syndromes
      • RECOMMENDED LITERATURE
    • chevron_rightDisorders of testosterone biosynthesis • written by: Dr. Péter Igaz
      • Mutations of gonadotropin receptors (gonadotropin resistance)
      • Disorders of testosterone metabolism
      • RECOMMENDED LITERATURE:
    • chevron_rightDisorders of androgen receptor/action • written by: Dr. Péter Igaz
      • Complete androgen insensitivity (CAIS) (Morris syndrome)
      • Partial androgen insensitivity (PAIS)
      • RECOMMENDED LITERATURE:
    • chevron_rightOther 46,XY disorders of sex development • written by: Dr. Klára Farkas and Veronika Donka
      • Cholesterol synthesis defect - Smith-Lemli-Opitz syndrome (SLOS)
      • Persistent Müllerian duct syndrome
      • Maternal administration of endocrine-disrupting substances
      • Form associated with prenatal growth restriction
      • RECOMMENDED LITERATURE
• chevron_rightGENETIC CHARACTERISTICS OF EXTRAGENITAL ENDOCRINE PATHOLOGIES/DISORDERS UNDERLYING GYNECOLOGICAL DISEASES
  • chevron_rightHypogonadotropic hypogonadism • written by Dr. Péter Igaz
    • Kallmann syndrome (KS)
    • Further rare causes of hypogonadotropic hypogonadism
  • Mutations in gonadotropins • written by: Dr. Péter Igaz
  • chevron_rightGenetics of prolactinoma • written by: Dr. Péter Igaz
    • Multiple endocrine neoplasia type I (MEN1)
    • Carney-complex
    • Familial isolated pituitary adenoma (FIPA)
    • McCune-Albright syndrome
    • RECOMMENDED LITERATURE:
• chevron_rightMOLECULAR GENETICS OF POLYCYSTIC OVARY SYNDROME • written by: Dr. Attila Patócs and Dr. Vince Kornél Grolmusz
  • Increased ovarian androgen production
  • Increased adrenocortical androgen production
  • Hyperinsulinemia
  • Hypothalamic-pituitary-ovarian axis
  • Other factors
  • RECOMMENDED LITERATURE
• chevron_rightGENETIC BACKGROUND OF PREMATURE OVARIAN INSUFFICIENCY
  • chevron_rightSignificance and cytogenetic causes of premature ovarian insufficiency • written by: Dr. Artúr Beke
    • Causes of premature ovarian insufficiency
    • Definition of premature ovarian insufficiency
    • chevron_rightCytogenetic abnormalities underlying premature ovarian insufficiency
      • Aneuploidies
      • X chromosome rearrangements
    • RECOMMENDED LITERATURE
  • chevron_rightPremature ovarian insufficiency and the role of the FMR1 gene • written by: Dr. Artúr Beke
    • The role of the FMR1 gene
    • Etiopathogenesis
    • (CGG) repeat expansion role
    • RECOMMENDED LITERATURE
  • chevron_rightOther monogenic causes of premature ovarian insufficiency • written by: Dr. Henriett Pikó
    • POI-related X chromosome genes
    • Autosomal genes associated with POI
    • RECOMMENDED LITERATURE
  • chevron_rightAssociation 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
• chevron_rightGENETIC BACKGROUND OF HABITUAL MISCARRIAGE
  • chevron_rightMolecular genetic abnormalities underlying habitual abortion • written by: Dr. István Balogh
    • chevron_rightThrombophilia
      • F5 gene (Coagulation Factor V)
      • F2 gene (Coagulation Factor II)
      • MTHFR gene (Methylenetetrahydrofolate Reductase)
    • The association of thrombosis with miscarriage
    • Options for investigating habitual miscarriage
    • Specific problems in scientific research of habitual miscarriage
    • RECOMMENDED LITERATURE
  • chevron_rightDetectable cytogenetic differences in the background of habitual miscarriage • written by: Dr. Henriett Pikó
    • Role of cytogenetic variants
    • RECOMMENDED LITERATURE
• chevron_rightGENETIC TESTING FOR OTHER GYNECOLOGICAL CONDITIONS • written by: Dr. Artúr Beke
  • Endometriosis
  • chevron_rightLeiomyoma
    • Fumarate hydratase deficient leiomyoma
    • RECOMMENDED LITERATURE
• chevron_rightGENETICS OF GYNECOLOGICAL MALIGNANCIES • written by: Dr. Henriett Butz and Dr. Artúr Beke
  • chevron_rightHereditary breast and ovarian cancer syndrome
    • BRCA1 and BRCA2 genes
  • 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//