What is it?
Congenital adrenal hyperplasia is a name for a group of related genetic conditions that affect the adrenal glands. Adrenal glands are a pair of walnut-shaped organs near the kidneys. Typically, with this condition, individuals do not manufacture enough of the hormone called cortisol. Babies to adults can be affected.
Causes and Symptoms
Congenital adrenal hyperplasia is an inherited genetic defect that causes abnormal formation of the enzyme that assists the adrenal glands in making cortisol. If both parents have congenital adrenal hyperplasia or if both parents are carriers of the genetic defect, this increases the risk to the child. This inheritance pattern is called autosomal recessive. Cortisol, a hormone, has an important part in maintaining good blood pressure, blood sugars, energy level and the protection against stress on the body.
Now, let’s talk about symptoms. First, there are two main kinds of congenital adrenal hyperplasia. There is the classic congenital adrenal hyperplasia and nonclassic congenital adrenal hyperplasia. With the classic congenital adrenal hyperplasia, symptoms are more severe and are detected at infancy or in young children. The Mayo Clinics lists the symptoms as:
Ambiguous genitalia in girls
Enlarged penis in boys
Failure to regain birth weight
Weight loss
Dehydration
Vomiting
Very early puberty
Rapid growth during childhood, but shorter than average final height
Irregular menstrual cycles in females
Infertility in women and men
Severe acne
Nausea
Fatigue
Low blood pressure
Low bone density
High blood cholesterol
Obesity
Slow recovery from infections, such as colds
In the nonclassic congenital adrenal hyperplasia, symptoms are milder and arise in late childhood or early adulthood. Symptoms as detailed by the Mayo Clinic may include:
Irregular or absent menstruation
In girls, masculine characteristics – facial hair, increased body hair, deep voice
Infertility
Very early puberty
Rapid growth during childhood, but shorter than average final height
Severe acne
Nausea
Fatigue
Low blood pressure
Low bone density
High blood cholesterol
Obesity
Slow recovery from infections, such as colds
Patients with congenital adrenal hyperplasia may also experience a decline in other hormones, such as, aldosterone. This decline causes problems in blood pressure, sodium and potassium levels. Sodium and potassium are very important in the regulating of fluids levels in the body, sending nerve impulses and contracting and relaxing of the muscles. Also, there may be an increase in hormones, such as, testosterone. This results in an excess in male hormones resulting in short stature, premature puberty, malformed genitalia in girls and severe acne. However, depending on which gene is defective, symptoms may vary.
Tests and Diagnosis
After a thorough physical examination, a pediatric endocrinologist will use blood and urine tests to measure hormone levels. In regards to newborns, doctors are required to test for congenital adrenal hyperplasia in many areas in the US. Even father than that, doctors can now test prenatally for this condition – especially is this advisable if both parents have this condition. As a result, treatment can begin to reduce the risks and complications. This will allow females to develop normal genitalia as well as reduce masculine features that may develop later on. In male fetuses, the treatment is given, but for shorter periods of time.
In most cases, medications can be used to restore normal hormonal levels. Doctors will watch for side affects by monitoring on a periodic basis. Although those with classic congenital adrenal hyperplasia may have to take meds indefinitely, some adults, especially with nonclassic congenital adrenal hyperplasia, are able to stop taking meds after a period of time.
Controversy
The controversy arises in the case of infant girls who have surgery to correct malformed genitalia. This surgery is performed between 2 and 6 months of age. It reduces the clitoris, which is usually enlarged. Some protest this type of surgery, indicating that corrective surgery should be put off until later on. Doctors argue the fact that it is best to perform this surgery when young as it will be a much more difficult procedure if done later on. It should be noted that infants who have this procedure done – later on in life - may need additional cosmetic surgery, may experience painful intercourse and have difficulty achieving an orgasm.
The sage advice would be to consider all aspects of this issue and talk to the attending physician; thereby, making informed decisions that will allow your daughter to live a life that’s happy and healthy.
Resource: Mayo Clinic
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