What is the most likely diagnosis?
- 14 year-old female with short stature and delayed puberty
Frontal Radiograph of Hand
- Rickets
- Leukemia
- Turner Syndrome
- Achondroplasia
- Pyknodysostosis
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Answer:
3.Turner Syndrome
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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)