Patient Education
What is CAH?
The adrenal glands are small triangular glands that sit on top of the kidneys and play an important role. They produce cortisol (the hormone responsible for a wide range of bodily functions such as glucose regulation and immune function), Androgens (hormones required for sexual development) and aldosterone (the hormone that prevents the kidneys from losing too much salt in urine).
These three hormones are produced by three different layers of the adrenal glands using various enzymes. When one of these enzymes, such as the 21-OH hydroxylase, is mutated, the adrenals produce less cortisol and aldosterone. To compensate for the lack of hormones, there is an increase in androgen production.
This results in Congenital Adrenal Hyperplasia. There are two forms of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency – Classical (more severe) and Non classical (milder form).
What Are the Signs & Symptoms of CAH?
The signs and symptoms of CAH are mainly dictated by the loss of cortisol and aldosterone and increase in androgens. Some forms of CAH can result in the development of ambiguous or masculine-appearing genitalia in a child with female (XX) chromosomes. A baby with male (XY) chromosomes may develop early puberty due to excess sex hormones.
Untreated newborns can present early in life with symptoms like failure to thrive, vomiting , Low blood pressure and dehydration.
Older children may experience early puberty, rapid growth, short adult height, and fertility issues.
Does everyone with a mutation get CAH?
CAH is an autosomal recessive condition. It can present as either carrier or diseased traits. Children who have a mutation in just one of the CAH-related genes do not have CAH symptoms are carriers, however they can pass the mutated gene to their children. This means that if two CAH carriers have a child, the child has a 25% chance of having CAH.
How is CAH diagnosed?
Before a baby is born, a prenatal ultrasound scan can detect CAH. However, it is usually suspected at birth or shortly thereafter based on symptoms (such as abnormal-appearing genitals).Blood tests, blood electrolyte levels to check for salt retention, karyotyping for sex determination, and X-rays to see done maturity can all help confirm the diagnosis of CAH.
How is CAH treated?
Treatment of CAH involves a lot of angles from the endocrinologist, geneticist and urologist. There are 2 broad arms in the management – medically replace the lost hormones and surgery. Hydrocortisone treatment compensates for cortisol deficiency and prevents low blood sugars and blood pressure.To maintain the salts in the body, fludrocortisone - a medicine that works like aldosterone can also be given.
When a child with CAH becomes ill, is injured, or requires surgery, he/she will require high doses of cortisol, known as "stress doses." Surgery would be needed to correct the ambiguous genitals' appearance which would be done typically around 6 months of age. Adolescents are also screened for fertility issues.
Message for parents
Children with CAH can lead normal lives and take full part in school and other activities with the right care. Girls with CAH may also experience typical growth and development, regular menstrual cycles, and childbearing.