Congenital adrenal hyperplasia (CAH) refers to a group of hereditary congenital conditions affecting the adrenal glands. A patient of this disorder suffers from the absence of one of the enzymes used by the adrenal glands in the production of hormones responsible for the regulation of metabolism, blood pressure, immune system and other important bodily functions. This disorder affects the production steroid hormones (one or more). These are cortisol (responsible for regulation of the body’s response to infections or stress), androgens (such as testosterone, sex hormones) and mineralcorticoids (such as aldosterone, responsible for the regulation of sodium and potassium levels). Mostly, this disorder results in overproduction of androgen and lack of cortisol.
There are many health facilities in United States that provide treatments for congenital adrenal hyperplasia. However, you have to travel from the place of residence to these facilities. Note that insurance planscover medical costs but not travel expenses. This means that you need to plan ahead so that travel expenses are put at the minimum.
If you already know the hospital facility from which you want to seek medical attention for congenital adrenal hyperplasia, you can go ahead and plan for your travel. If not so, you can check our list of hospitals in the US that offer care for the disorder. In case you are not able to meet your travel expenses, you can check our directory of charitable organizations that help in arranging cost-free travel for medical services.
About Congenital Adrenal Hyperplasia
The most common and milder type of congenital adrenal hyperplasia is referred to as non classic. The more severe classic type can be diagnosed in infant screening programs. Some types of this disorder can interfere with normal growth and development in children and even develop to become fatal. Although there is no cure for congenital adrenal hyperplasia, most patients with the condition can lead normal lives with proper treatments.
21-hydroxylase is the enzyme that lacks in 95% of CAH cases. This is why CAH is sometimes also called 21-hydroxylase deficiency. There are also other rare enzyme deficiencies that are responsible for CAH.
This disorder is transmitted in an autosomal recessive inheritance pattern. Children suffering from CAH have two parents also suffering from the disorder or are both carriers of the genetic defect.
Symptoms of Congenital Adrenal Hyperplasia
The signs and symptoms of congenital adrenal hyperplasia manifest differently depending on the particular gene that is defective and the deficiency level of the enzyme. There are two major forms of congenital adrenal hyperplasia;
- Classic CAH. This is the more severe type of the disorder and is usually detected at birth.
- Non-classic CAH. This is the milder and more common type andmight not become manifesttill childhood or early adulthood.
A third of the patients suffering from classic CAH have the simple virilizing type while two thirds have the salt-losing type. In the two types, females have genital ambiguity.
Children suffering from this type of CAH may experience the following;
- No production of cortisol in both types of CAH, which regulates blood pressure, maintains blood sugar and protects the body from stress.
- No production of aldosterone in the salt-losing type. This may lead to low blood pressure, lower sodium and higher potassium levels. The two are responsible for the right fluid balance in the body.
- Too much sex hormone (androgens like testosterone). This may lead to short height and early puberty. It can also result in abnormal genital development in females in the womb.
Infants suffering from classic CAH may manifest the following signs and symptoms;
- Enlarged clitoris in females and ambiguous genitalia (genitals that appear more male than female) at birth. Males have normal genitalia.
- Majorsicknesses associated with adrenal crisis (lack of aldosterone, cortisol or both) which can threaten life.
Children and adults suffering from classis CAH may experience the following signs and symptoms;
- Fast growth in childhood but shorter than normal height finally.
This is comparably milder type of CAH. There are no symptoms in newborns. This disorder type cannot be identified on blood screening of the infant but becomes apparent only during late childhood or early adulthood. The deficiency of hormones involves only the cortisol levels.
Teenage and adult females suffering from this type of CAH have genitals that appear normal at birth. However, they may later experience the following signs and symptoms;
- Irregular or absent menstrual periods
- Masculine characteristics like facial hair, too much body hair and deep voice
- Severe acne
Both males and females suffering from this condition may also experience early onset of pubic hair and fast growth during childhood, but shorter than average final height.
Where to Go for Congenital Adrenal Hyperplasia
There are many care centers in the US where patients can seek congenital adrenal hyperplasia treatments. These hospitals have the equipments, professionals and medications needed to provide the best healthcare treatments possible. One of the best hospitals where patients can get specialized treatment and management of this disorder include;
- Children’s Hospital Los Angeles
The hospital has assembled a unique team of specialized doctors, nurses and other support health experts devoted to offering care, treatment and support to patients diagnosed with CAH. At the hospital’s CAH program, they partner with other centers and multidisciplinary specialists to provide comprehensive care and education, genetic counseling and consultation, behavioral health and nutritional consultation, imaging services, pediatric urology consultation as well as perinatology consultation.
Treatments of Congenital Adrenal Hyperplasia
In order to provide the best treatments for CAH, a proper diagnosis must first be done. In line with this, the doctor may recommend the following;
- Prenatal testing. This is done in fetuses when siblings have the condition or are known to be carriers of the defect. This is done in two ways; (withdrawing a sample of amniotic fluid from the womb to examine the cells) and Chorionic villus sampling (withdrawing cells from the placenta for examination).
- Newborns, infants and children. Every newborn in the United States must undergo screening for classic CAH.
The doctor may also recommend the following in the process of diagnosis;
- Physical exam and if suspicion of CAH, confirmation done using urine and blood tests.
- Blood and urine tests. This examines whether there are abnormal levels of hormones.
- Gene testing done in older children.
- Sex-determining test. This is done in case of ambiguous genitalia by analyzing chromosomes or by way of pelvic ultrasound to assess the presence uterus and ovaries.
If CAH is confirmed, the doctor will refer the child to pediatric endocrinologist (expert in childhood hormonal cases) for treatment. The team to provide this type of healthcare may consist of other specialists like urologists, geneticists, psychologists and any others as the case may be.
Treatment for this disorder is aimed at reducing levels of androgen and replacing lacking hormones. Those with non-classical type usually do not need treatment but may only require small corticosteroids doses.
Medications for congenital adrenal hyperplasia consist of corticosteroids to replace cortisol as the main treatment option. Others are Mineralocorticoids in order to replace aldosterone to assist in retention of salt and removal of excess potassium as well as salt supplements. Females with ambiguous genitalia may undergo reconstructive surgery.
Risks Associated with Congenital Adrenal Hyperplasia
There are several risks associated with this disorder. These risks include the following;
- Pregnant women with medical history of the disorder
- Parents with CAH or are both carriers of the defect
- Some ethnic groups such as Ashkenazi Jews, Italians, Yupik Inuits, Hispanics and Yugoslavians.
Who Can Go For Congenital Adrenal Hyperplasia
Any newborn should go through newborn screening. During this screening, classic CAH is usually detected. Additionally, if the female infant shows ambiguous genitalia, she should see CAH specialist immediately. Babies with signs and symptoms of the disorder, or showing signs of severe sicknesses as a result of low levels of aldosterone, cortisol or both, should see the CAH specialist. Others who should go for non-classic CAH diagnosis and treatment include toddlers and children showing signs and symptoms of early puberty. Pregnant mothers should go for screening while those contemplating child bearing should go for genetic counseling.