An 18-year-old male patient presents to the clinic. On physical assessment, the nurse notes the patient is exceptionally tall, has a soft, high-pitched voice, female-like breasts, and minimal male secondary sex characteristics. Additionally, the patient is found to have mild-moderate mental impairment. The nurse anticipates genetic testing will be positive for which of the following conditions?

Question

An 18-year-old male patient presents to the clinic.  On physical assessment, the nurse notes the patient is exceptionally tall, has a soft, high-pitched voice, female-like breasts, and minimal male secondary sex characteristics. Additionally, the patient is found to have mild-moderate mental impairment. The nurse anticipates genetic testing will be positive for which of the following conditions?

Accepted Answer

Klinefelter syndrome. A phenotypic male with sparse body hair, high-pitched voice, small testes, mild to moderate mental impairment, and gynecomastia is consistent with Klinefelter syndrome, which is caused by one additional copy of the X chromosome, 47, XXY.  This patient&rsquo;s symptoms do not reflect Down syndrome (low nasal bridge, simian palmar creases, low set ears), Turner syndrome (short stature, webbed neck), or Fragile X syndrome (long face, large ears, flexible fingers, large testes).

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