Congenital Adrenal hyperplasia
This is a genetic condition where a person’s adrenal glands do not work well. There are problems with too little and too much function in different parts of the adrenal glands. Affected children may show with ‘ambiguous genitalia’ : a condition where the genitalia may look unusual, or they may end up with a ‘salt-wasting crisis’ i.e end up in hospital dehydrated and weak, and have their blood salt balance all abnormal. Some others may show signs of growing up into a man early (in boys) , and to some extent in girls. Some girls may show Polycystic ovary like symptoms.
The treatment is based on the severity and extent of disease of the adrenal glands. Sometimes multiple medications are needed, the balance and interplay between which needs to be finely tuned.
This is a lifelong condition, with implications for reproduction and a risk of recurrence in other children of the same parents, and in children of the patient too. This too needs to be addressed. A good Paediatric Endocrinologist can facilitate all the above.