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DETERMINAREA SEXULUI

DETERMINAREA SEXULUI. Genes involved in the creation of undifferentiated gonad WT1 – gene : its abnormality is associated with failure of gonadal differentiation Deny-Drash syndrome: - failure in gonadal differentiation - nephropaty - Wilms’tumour Frasier’s syndrome:

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DETERMINAREA SEXULUI

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  1. DETERMINAREA SEXULUI Genes involved in the creation of undifferentiated gonad WT1 – gene : its abnormality is associated with failure of gonadal differentiation Deny-Drash syndrome: - failure in gonadal differentiation - nephropaty - Wilms’tumour Frasier’s syndrome: - failure of gonadala differentiation - gonadoblastoma WAGR syndrome: - Wilms’tumour - aniridia - genital abnormalities, mental retardation Hiort O., Holterus P-M: The mollecular bases of male sexual diffrentiation. Eur.J.Endocrinol. 2000, v. 142, 101-110

  2. DETERMINAREA SEXULUI Genes involved in the creation of undifferentiated gonad LIM-1 gene:homozygous deletion: failure of development of both gonads and kidney In humans renal and gonadal abnormalities associated with brain abnormalities were reported FTZ-1-F1 – gene for SF-1 – steroidogenic factor 1encodes a nuclear orphan receptor. Its mRNA is found in the genital ridge, adrenals and hypothalamus Its deletion in mice determines failure of developing gonads, adrenals and hypothalamus Roles of SF-1: gonadal differentiation, adrenal and hypothalamus differentiation, regulates enzyimes involved in steroidogenesis, regulates transcription of anti-Mullerian hormone (AMH) Hiort O., Holterus P-M: The mollecular bases of male sexual diffrentiation. Eur.J.Endocrinol. 2000, v. 142, 101-110

  3. DETERMINAREA SEXULUI Testis determining factor (TDF) = SRY – sex-determining region of the Y chromosome A single exon gene that: - binds to the promoter of AMH-gene induces the expression of AMH and prevents the formation of Mullerian ducts - genetic engineering: female xx embrios transfected with sry develop a normal male phenotype SRY mutations are associated with complete sex reversal in 46, xy individuals SRY mutations were described in true hermaphroditism with both testicular and ovarian tissues development Hiort O., Holterus P-M: The mollecular bases of male sexual diffrentiation. Eur.J.Endocrinol. 2000, v. 142, 101-110

  4. DETERMINAREA SEXULUI Autosomal genes involved in male sex determination SOX-9(SRY-box related) transcribed following SRY expression in male genital structures. It is also an activator of the type 2 collagen gene. Defects in SOX-9 determine sex reversal in 46.xy individuals and skeletal malformations known ascampomelic dysplasia Chromosome 10q: its terminal deletion is associated with genital malformations and mental retardation Hiort O., Holterus P-M: The molecular bases of male sexual differentiation. Eur.J.Endocrinol. 2000, v. 142, 101-110

  5. DETERMINAREA SEXULUI DAX-1 : dosage sensitive sex reversal locus-adrenal hypoplasia congenita-critical region on the X chromosome, gene-1. (Xp21) DAX-1 gene is expressed during ovarian development but is suspended during testicular formation. DAX-1 is critical for ovarian development DAX-1 gene is repressed by SRY during testicular development DAX-1 gene duplication results in impaired testicular formation and sex reversal Mutations in DAX-1 genediminishing gene activity determinecongenital adrenal hypopplasia and hypogonadotropic hypogonadism Hiort O., Holterus P-M: The mollecular bases of male sexual diffrentiation. Eur.J.Endocrinol. 2000, v. 142, 101-110

  6. DIFERENTIEREA SEXULUI Sertoli AMH TESTICUL DMRT-1, -2 SOX 9 SRY Leydig - testosteron WT-1 LIM-1 GONADA BIPOTENTIALA MEZODERM SF-1 DAX 1 ESTROGENI, PROGESTERON OVAR

  7. DIFERENTIEREA SEXULUI

  8. Testiculul repere anatomice

  9. TESTICULUL ANATOMIE

  10. TESTICULUL HISTOLOGIE

  11. TESTICULUL

  12. SPERMIOGENEZA

  13. CELULA SERTOLI

  14. TESTICULUL • Defect de P450 –aromataza la barbat • Cromozom 15 q21.1 • Faustini-Fustini Marco: Eur.J. Endocrinol, 1999, 140, 111-129

  15. Clinical features in congenital oestrogen deficiency

  16. Congenital oestrogen deficiency

  17. TESTICULUL

  18. TESTICULUL

  19. TESTICULUL

  20. TESTICULUL

  21. TESTICULUL

  22. TESTICULUL

  23. TESTICULUL

  24. TESTICULUL

  25. EFECTELE ANDROGENILOR - prenatal

  26. EFECTELE ANDROGENILOR – neonatal, pubertar

  27. EFECTELE ANDROGENILOR – metabolice

  28. TESTICULUL – determinarea volumului testicular

  29. TESTICULUL – ASPECTE ECHOGRAFICE Determinarea volumului testicular prin calculul arie-lungime-diametru

  30. TESTICULUL – ASPECTE ECHOGRAFICE Hidrocel – zona larga fara echouri care inconjoara testiculul

  31. TESTICULUL – ASPECTE ECHOGRAFICE Testiculul drept are aspect normal Testiculul sting are volum diminuat si hipoechigenitate datorita unei orhidopexii din antecedente Epididimul marit de volum si hipoechogen in cazul unei epididimite acute

  32. TESTICULUL – ASPECTE ECHOGRAFICE • Cresterea diametrului plexului pampinifor • Cresterea diametrului plexului pampinifor prin manevra Valsalva • Reflucul venos in timpul manevrei Valsalva este documentat echoDoppler

  33. TESTICULUL – ASPECTE ECHOGRAFICE Parenchim neomogen cu arii hipo si hiperechogene – seminom pT1 N0 M0 Arii intratesticulare multiple cu aspect chistic, fin limitate cu intarire posterioara de echouri in parenchim testicular cu aspect in rest normal

  34. TESTICULUL – ASPECTE ECHOGRAFICE Zona hipoechogena la polul inferior al testiculului, mici arii hiperechogene in parenchim de altfel normal seminom pT1 N0 M0 Calcificari intratesticulare cu extinctia posterioara de eouri

  35. TESTICULUL – ASPECTE ECHOGRAFICE Mica zona hipoechogena la polul superior al testiculului corespunzind unei tumori cu celule Leydig Mici zone hiperechogene diseminate intr-un parenchim testicular normal –Sindrom “numai celule Sertoli”

  36. TESTICULUL

  37. EXPLORAREA FUNCTIEI TESTICULARE TESTOSTERON /FSH/LH TESTOSTERON LH FSH TESTOSTERON LH FSH TESTOSTERON LH FSH HIPOGONADISM HIPOGONADOTROP HIPOGONADISM HIPERGONADOTROP HIPOGONADISM NORMOGONADOTROP

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