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
  • RECOMMENDED LITERATURE
• CLASSIFICATION 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
• 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
• GENETICS 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
• 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
    • 45,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
    • 45,X/46,XY - mixed gonadal dysgenesis
      • Clinical characteristics
      • Genotypes
      • Malignancy risk of the 45,X/46,XY karyotype
      • Genetic diagnosis
      • RECOMMENDED LITERATURE
    • 46,XX/46,XY chimerism - clinical characteristics and genetic diagnosis
      • Clinical characteristics of chimerism
      • Genotype
      • Risks
      • Genetic diagnostics
      • RECOMMENDED LITERATURE
    • 47,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
  • 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
      • 46,XX ovotesticular DSD and 46,XX testicular DSD
      • 46,XX gonadal dysgenesis
      • RECOMMENDED LITERATURE
    • Fetal causes of androgenic predominance • written by: Dr. Attila Patócs
      • Forms of congenital adrenal hyperplasia (CAH) and their gynecological implications
      • Glucocorticoid receptor mutation
      • RECOMMENDED LITERATURE:
    • Fetoplacental and maternal causes of androgenic predominance • written by: Dr. Artúr Beke and Dr. Klára Farkas
      • Fetoplacental causes
      • Maternal causes
      • RECOMMENDED LITERATURE
    • Other 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
  • 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
      • 46,XY gonadal dysgenesis and 46,XY ovotesticular DSD
      • Gonadal dysgenesis associated with syndromes
      • RECOMMENDED LITERATURE
    • Disorders of testosterone biosynthesis • written by: Dr. Péter Igaz
      • Mutations of gonadotropin receptors (gonadotropin resistance)
      • Disorders of testosterone metabolism
      • RECOMMENDED LITERATURE:
    • Disorders of androgen receptor/action • written by: Dr. Péter Igaz
      • Complete androgen insensitivity (CAIS) (Morris syndrome)
      • Partial androgen insensitivity (PAIS)
      • RECOMMENDED LITERATURE:
    • Other 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
• GENETIC CHARACTERISTICS OF EXTRAGENITAL ENDOCRINE PATHOLOGIES/DISORDERS UNDERLYING GYNECOLOGICAL DISEASES
  • Hypogonadotropic hypogonadism • written by Dr. Péter Igaz
    • Kallmann syndrome (KS)
    • Further rare causes of hypogonadotropic hypogonadism
  • Mutations in gonadotropins • written by: Dr. Péter Igaz
  • Genetics 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:
• MOLECULAR 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
• GENETIC BACKGROUND OF PREMATURE OVARIAN INSUFFICIENCY
  • Significance and cytogenetic causes of premature ovarian insufficiency • written by: Dr. Artúr Beke
    • Causes of premature ovarian insufficiency
    • Definition of premature ovarian insufficiency
    • Cytogenetic abnormalities underlying premature ovarian insufficiency
      • Aneuploidies
      • X chromosome rearrangements
    • RECOMMENDED LITERATURE
  • Premature 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
  • Other monogenic causes of premature ovarian insufficiency • written by: Dr. Henriett Pikó
    • POI-related X chromosome genes
    • Autosomal genes associated with POI
    • RECOMMENDED LITERATURE
  • 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
• GENETIC BACKGROUND OF HABITUAL MISCARRIAGE
  • Molecular genetic abnormalities underlying habitual abortion • written by: Dr. István Balogh
    • Thrombophilia
      • 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
  • Detectable cytogenetic differences in the background of habitual miscarriage • written by: Dr. Henriett Pikó
    • Role of cytogenetic variants
    • RECOMMENDED LITERATURE
• GENETIC TESTING FOR OTHER GYNECOLOGICAL CONDITIONS • written by: Dr. Artúr Beke
  • Endometriosis
  • Leiomyoma
    • Fumarate hydratase deficient leiomyoma
    • RECOMMENDED LITERATURE
• GENETICS OF GYNECOLOGICAL MALIGNANCIES • written by: Dr. Henriett Butz and Dr. Artúr Beke
  • Hereditary 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