Which way to go?

• Author: Fleming, Louise
• Position: HEALTH BEAT - Ongenital adrenal hyperplasia

BEING a PARENT is not easy. Parents are confronted every day with difficult choices they have to make for their children. Do I need to take my daughter to the doctor for her fever? Is hockey or soccer a good sport to play even though there is a risk of my son getting hurt? Should I let him drive at night despite the approaching storm? These are all decisions that parents make, often after seeking information from their families, friends, and health-care providers. They weigh the pros and cons, listen to advice offered, make decisions, and hope for the best. However, there are certain decisions some parents must make that they never imagined they would be confronted with. Friends cannot really offer advice, and doctors only can present them with imperfect options, which they know will greatly affect their child--one way or another--for the rest of his or her life.

When a girl is born with classical congenital adrenal hyperplasia (CAH), parents often must make this type of decision--the kind that keeps them up at night; that they cannot post on Facebook to see what other parents did when faced with the same situation. The choice involves whether or not their daughter should have surgery to correct the atypical genitalia she was born with.

CAH is an inherited endocrine condition that affects males and females and places those affected at risk for adrenal crisis. There is no cure, although daily treatment with certain medications is effective in controlling the condition. Babies born with CAH have elevated levels of testosterone throughout gestation that decrease to normal levels after treatment has begun. Some girls with CAH are born with atypical genitalia due to the elevated testosterone exposure during gestation. Despite this anomaly, these girls are XX individuals with functioning ovaries, fallopian tubes, and internal anatomy, with the capability of conceiving. The vast majority of these girls develop in adolescence similarly to their non-CAH-affected peers and identify as females throughout their lives.

CAH also is a life-threatening condition for all who are affected. They must be given additional medication or an intramuscular injection when acutely ill to prevent a potentially fatal adrenal crisis. After parents of a newborn baby girl with CAH have digested this frightening aspect of the condition, they must process how best to respond to their daughter's atypical genitalia.

If they hold off surgery (which may include surgical...