Q:

An 18-month-old female child had been diagnosed as Turner syndrome(45,XO), FISH analys is shows Y chromosome mosaicism

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An 18-month-old female child  had been diagnosed as Turner syndrome(45,XO), FISH analys is shows Y chromosome mosaicism, Of the following, the MOST appropriate next step is to


  1. refer to endocrinologist
  2. reassure as the course will be milder
  3. advise for feminizing hormones
  4. arrange for laparoscopic removal of gonads
  5. rear the child as male gender

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(D). Phenotypic females with 45, X/46, XY mosaicism have a 15-30% risk of developing gonadoblastoma. The American Academy of Pediatrics has recommended the use of FISH analysis to look for Y-chromosome mosaicism in all 45, X patients. If Y chromosome material is identified, laparoscopic gonadectomy is recommended.

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