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Case of the Week 610


What is the most likely diagnosis?

  • 14 year-old female with short stature and delayed puberty



Frontal Radiograph of Hand

  1. Rickets
  2. Leukemia
  3. Turner Syndrome
  4. Achondroplasia
  5. Pyknodysostosis

Additional Image - None

 

Additional Images

 

 

None


Answer:

3. Turner Syndrome

More (Click Discussion Tab)

 

 

Turner Syndrome

General considerations

  • 1 out of every 2,000-2,500 female live births
  • Almost all (95%) have
    • Short stature
    • Loss of ovarian function
  • Caused by the absence of a set of genes from the short arm of one X chromosome
  • Single X chromosome
    • 75-80% single X is contributed by mother
    • X-O = Female (Turner Syndrome)
    • X-X-Y=Male (Klinefelter Syndrome)

MORE . . .


.

This Week

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LearningRadiology.com
is an award-winning educational website aimed primarily at medical students and radiology residents-in-training, containing  lectures, handouts, images, Cases of the Week, archives of cases, quizzes, flashcards of differential diagnoses and “most commons” lists, primarily in the areas of chest, GI, GU cardiac, bone and neuroradiology.