What is Congenital Adrenal Hyperplasia?
Congenital Adrenal Hyperplasia (CAH) refers to a set of inherited (present since birth) disorders occurring both in males and females which are caused by a missing enzyme needed for the body to function properly causing overproduction of male hormones.
The most common type of CAH results from low production of an enzyme of the adrenal gland called 21-hydroxylase which manifests with raised levels of 17OHP. Among these there is a dangerous and life threatening variety called Salt Losers. These children are not able to maintain Sodium levels in their blood. These children if are not diagnosed right after birth have very slim chances of survivor.
The classic form initiates while the baby is still forming before birth and its symptoms are present in the newborn, while the non-classical form is often referred to as "late-onset" CAH because it presents later in infancy, or it can even surface in adulthood.
If I have CAH, will my children get it?
If you and your partner have any form of CAH, your children might also have it. Remember, some people can have mild CAH and not know it, so you should tell your doctor as soon as you think you or your partner may be pregnant. A baby can be treated before she is born if the mother takes the medicine. If your baby has CAH and is female, treatment should begin as soon as you know you are pregnant.
Patient education and general awareness:
Education is power in the proper management of CAH. Patients and their families should be properly educated on their condition.
Inheritance and Frequency
Classical CAH occurs in approximately one of every 15,000 births, while the non-classical form is found in about one in 100 births.
Signs & Symptoms
Mild forms of the disease (called "non-classical") result in symptoms such as severe acne, excess facial and/or body hair, early development of pubic hair, receding scalp hairline, menstrual disturbances in females, and infertility in both males and females.
More severe forms of the disorder (called "classical salt wasting" CAH) can result in ambiguous genitalia in a newborn girl, as well as severe salt and hormonal imbalances in both girls and boys.
Long Term Effects
If not treated, CAH can cause heart failure and death within a few days from birth. Although CAH cannot be cured, it can be effectively treated.
Treatment
Most forms of congenital adrenal hyperplasia are usually treated by use of medication.
Prenatal therapy with a synthetic hormone called dexamethasone throughout pregnancy can allow proper development of the external genitalia in female fetuses. Affected girls are then born with normal external genitalia and do not require corrective surgery.
Children are given Florinef along with Hydrocortisone in place of dexamethasome causes stunting in growth and the patients do not achieve proper adult height.
Our services
- Cost to cost Investigations for 17OHP
- Free supply of Hydrocortisone and Florinef
- Genetic Counseling
- Educator
- 24/7 telephone emergency support
- Patient registration
