Question

4. Scott is 13 years old. His parents have taken great pains to raise him as a boy, forbidding him having play dates with girls, dressing him in sports jerseys, and only allowing him to play with toys targeted at boys. He has always identified more closely with girls and does not partake in the roughhouse play most of his male classmates enjoy, although he does like basketball. Scott has begun to notice differences between his body and the other boys on the junior high basketball team. He has yet to develop pubic hair and his penis is significantly smaller than those of any of the other boys. Scott is being bullied by some of his peers for his appearance and is becoming frustrated with the gender-based constraints that his parents are placing on him. He plans to bring up his situation with his doctor at his annual physical What information would you need to diagnose Scott's condition? What is your diagnosis? What course of action would you recommend for Scott? What issues may Scott face in the future? Assuming that Scott's condition is not due to a new mutation, what are Scott's parents genotypes? What was the chance of Scott's parents having a chromosomally female (XX) child with his phenotype? What was the chance of Scott's parents having a chromosomally male (XY) child with his phenotype?

Answer 1

Answer 1) To diagnose Scott's condition, information regarding his body hairs, size of genitals, breast development, speech ability, and reading ability is required.

Answer 2) The symptoms suggested that Scott has Klinefelter disease. It is a condition in which an extra X chromosome is present along with the XY chromosomes in males which leads to the symptoms such as less hair growth, development of breast in boys, no interest in sex, reading and speech difficulties.

Answer 3) I would recommend counseling sessions for better adjustment with this condition. It will help Scott to gain confidence and understand his condition. Speech and language therapy will also be beneficial to cope up with his speech and reading difficulties if any. In addition to this, after doing a full body examination testosterone replacement can also adviced if the hormonal levels are lower than the threshold value.

Answer 4) In future Scott may face several physical and psychological issues such as depression, difficulty in reproduction, enlarged breast development and a higher risk of breast cancer.