Q: My daughter is 7 and has started to develop body odor. Is this normal for a child with CAH?

A: An adult-like body odor in a young child is a sign of androgens, which may come from CAH or sometimes from puberty. If your daughter has body odor or acne or a growth spurt, it may be a sign that her medication needs to be adjusted. Please consult with your endocrinologist to check her labs and make sure that she is on the correct dose.

Q: I have a 13 year old son who was diagnosed with Non-classic form of CAH last year. He was hurt at football which resulted in a C.A.T. scan which revealed a tumor on his right adrenal gland. Blood work returned abnormal which concerned the doctors. He had surgery to have the adrenal gland and tumor removed in October, 2009. No cancer was detected. Since then he has been seen by a Pediatric Endocrinologist about every three months. My son’s blood work has all returned with high levels of the 17 progesterone levels. His bone age xray is fine. He has no signs of early puberty. He is 4’9″ and weighs 102 lbs. A DNA test confirmed he has the mutation 21 Hydrox..deficiency and both my husband and I are carriers. The doctor has not started him on medication yet. I’m not sure if the meds are needed. My question to you is, do you think my son needs medication? He has only high 17 progesterone levels and no other symptoms. Genetic testing confirmed the CAH. I just am really apprehensive about starting him on steroids when it doesn’t look like he has any symptoms of CAH besides the 17 prog. levels being high (equal to a 17 year old boy, this is what his doctor said). She wants to retest him again in January to see what his levels look like. Any advice? Thank you.

A: Whether or not to treat non-classical CAH depends on each individual patient. If a non-classical patient has no symptoms, such as signs of early puberty or an advanced bone age (X-ray of the hand, which looks at the growth plates), then treatment is usually not indicated, even if the 17OHP is high. On the other hand, it makes sense to monitor his hormone levels, pubertal exam, growth, and bone age because some non-classical patients will have an advanced bone age (the age of the growth plates is older than the actual age) and can end up being short as an adult despite being normal to tall as a child. If that is the case, then it might make sense to treat with hydrocortisone to prevent early closure of the growth plates. The decision to treat or not to treat will depend on all the factors mentioned above, and those factors may change over time. If you continue following with your endocrinologist, she should be able to guide you with the decision process.