Σύνδρομο Τurner

TURNER SYNDROME 45X

Πρόκειται για μια χρωμοσωμική ανωμαλία που συναντάται μόνο στο γυναικείο πληθυσμό. Σε ασθενείς με σύνδρομο Turner συνήθως λείπει ολόκληρο ή τμήμα του Χ χρωμοσώματος σε όλα ή σε μερικά από τα κύτταρα τους. Θεωρείται σποραδικό εύρημα και δε συνδέεται  με την αυξημένη ηλικία της μητέρας.

Συχνότητα:

  • 1:2500 γεννήσεις θηλέων νεογνών.
  • Μόνο το 1% των εμβρύων με σύνδρομο Turner επιβιώνουν ενδομήτρια.
  • Υπολογίζετε ότι σχεδόν το 50% έχει πλήρες έλλειψη 45Χ του  Χ χρωμοσώματος , 40% θα έχει μωσαϊκισμό  και ένα 10% θα έχει δομική ανωμαλία ενός εκ των δύο Χ χρωμοσωμάτων.

Υπερηχογραφικά χαρακτηριστικά:

  • Εμβρυϊκό  ύδρωμα.
  • Κυστικό ύδρωμα.
  • Κοντό μηριαίο οστό.
  • Ενδομήτρια καθυστέρηση της ανάπτυξης.
  • Στένωση της αορτής.
  • Ανωμαλίες του νεφρικού συστήματος.

Χαρακτηριστικά ενηλίκων:

  • Κοντό ανάστημα (συνήθως 20 cm < μέσο όρο ).
  • Δυσγενεσία των γονάδων ( υπογονιμότητα ).
  • Χαρακτηριστικά κοντό και πλατύ λαιμό.
  • Λεμφοοίδημα.
  • Καρδιολογικές και νεφρολογικές παθήσεις.
  • Ενδοκρινολογικά προβλήματα.

Διαχείριση:

  • Αυξητική ορμόνη για τη βελτίωση του αναπνευστικού.
  • Μακροχρόνια ορμονική θεραπεία αποκατάστασης.

Διάγνωση:  

  • Υπερηχογραφικά ευρήματα
  • Επεμβατικός έλεγχος (CVS / αμνιοπαρακέντηση  -100% )
  • Εξέταση μητρικού αίματος  ( free call  DNA )

 

 

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