Q: My daughter was born in Massachusetts and had newborn screening 19 years ago.   It was found that she had a rare metabolic condition.   I believe CAH  is one of the disorders that the state also tests for.  Is it possible to have this disorder in its non classical form and not have it show up on newborn screening? 

A: Most states in the U.S were not screening for CAH in 1991, but Massachusetts was indeed one of the few states screening for CAH in 1991.  However, the newborn screen for CAH is designed to detect classical patients, not non-classical patients.  Many non-classical patients will have normal 17-hydroxyprogesterone (17OHP) (the hormone measured in the screen) levels at birth and may not manifest symptoms of the disorder (or even have elevated 17-OHP levels) until later in life.  Even though the screen was negative at birth, yes, it is possible for your daughter to have the milder non-classical form of CAH.  An endocrinologist would be able to help determine if your daughter does or does not have the condition.

Q: I have a grandson who is going to be 7. He was born with classical CAH and is on cortisone and fluronef treatment (steroids to replace #21 steroid he is missing in adrenal gland). His endocrinologist is suppressing growth, but he is gaining too much weight. A combination of steroids, increased appetite, and genetic build —-I believe are putting too much weight on him. He also has asthma and his allergy doctor was concerned (he had recently gained 7 more pounds–up to 107 pounds now!). I believe there needs to be an adjustment in medication so he could lose weight and not compromise his respiratory and cardiac systems–also, his grandmother on father’s side is diabetic. Would you have any suggestions for his mother (who is my daughter) to ask the endocrinologist and primary physician as to what to do so he could lose some weight without upsetting the CAH problem? His waist is 30 inches now and having to get 12 husky pants–growing out of clothes even this summer. I know that weight is a problem for CAH patients, but my grandson’s health of going toward metabolic syndrome /obesity is of great concern at this point. What could we ask the doctor about to help my grandson?

A: Weight can be difficult to control in CAH due to several factors, one of those being steroid treatment. Too much testosterone from the adrenal glands can also cause increased musculature, leading to weight gain as well. One thing to be cautious about is to avoid overtreatment with steroids.  In addition to replacing cortisol, one of the other goals of treatment is to suppress androgen production (such as testosterone) from the adrenal gland and to normalize growth — the growth rate should not be too fast or too slow.  Overtreatment with steroids will cause the growth to slow down too much and can cause excessive fat accumulation around the face and around the abdomen (and sometimes the neck) – we call this “Cushing Syndrome.”  Perhaps your daughter could ask the endocrinologist if it would be possible to lower the steroid dose even a little bit.  The additional problem of increased weight gain is that the excess fat makes the CAH difficult to control because hydrocortisone becomes sequestered in the fat, and then the doctor has to increase the dose, and then the patient gains more weight, and it becomes a vicious cycle.  The other thing to mention is that excess fat can lead to Vitamin D deficiency, and patients with CAH who are treated with chronic steroids need to remain vigilant about their bone health.  It might make sense for your grandson to have his Vitamin D level checked.

Q: Our adult son has Classical CAH. Recently his skin pigmentation has changed drastically. His skin has turned extremely dark as though he lived in a tropical climate and was in the sun all day. Is this a reaction to the steriods he is on?

A: Thank you for that excellent question!  Darkening of the skin can be a sign of inadequate cortisol.  When the pituitary gland (master gland in the brain) senses there is not enough cortisol, it produces more ACTH, which normally stimulates the adrenal gland to produce more cortisol (but in patients with CAH, the adrenal gland is unable to make cortisol, and we must treat them with hydrocortisone or similar medications).  ACTH is produced with another hormone called melanocyte stimulating hormone (MSH), and they are released together from the pituitary gland.  MSH causes the melanocytes in the skin to make more pigment (melanin), and that is what causes darkening of the skin.  It is very important that your son sees his doctor to make sure he is getting enough medication.