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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 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
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
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
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
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
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
Testiculul repere anatomice
TESTICULUL • Defect de P450 –aromataza la barbat • Cromozom 15 q21.1 • Faustini-Fustini Marco: Eur.J. Endocrinol, 1999, 140, 111-129
TESTICULUL – ASPECTE ECHOGRAFICE Determinarea volumului testicular prin calculul arie-lungime-diametru
TESTICULUL – ASPECTE ECHOGRAFICE Hidrocel – zona larga fara echouri care inconjoara testiculul
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
TESTICULUL – ASPECTE ECHOGRAFICE • Cresterea diametrului plexului pampinifor • Cresterea diametrului plexului pampinifor prin manevra Valsalva • Reflucul venos in timpul manevrei Valsalva este documentat echoDoppler
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
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
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”
EXPLORAREA FUNCTIEI TESTICULARE TESTOSTERON /FSH/LH TESTOSTERON LH FSH TESTOSTERON LH FSH TESTOSTERON LH FSH HIPOGONADISM HIPOGONADOTROP HIPOGONADISM HIPERGONADOTROP HIPOGONADISM NORMOGONADOTROP