Medically reviewed and verified by Kate Burke, MD, MHA
Estimated reading time: 5 minutes
Congenital adrenal hyperplasia (CAH) is a complicated disease. Essentially, CAH is a genetic mutation of the adrenal gland, which leads to improper production and balance of hormones. There are a few variations of this condition.
In this article, PatientsLikeMe is going to break down congenital adrenal hyperplasia into two categories: classic and nonclassic CAH. These two make up 95% of all cases. We are here to give you a medically reviewed guide to both, so you can better understand the diagnosis and treatment.
Classic CAH
Classic CAH is the more severe form of the disorder and is often apparent from birth or early childhood. It is primarily caused by a deficiency in the enzyme 21-hydroxylase, which is necessary to produce cortisol and aldosterone in the adrenal glands. As a result, people with classic CAH experience a range of symptoms related to hormonal imbalances. There are two subtypes of classic congenital adrenal hyperplasia.
Salt-Wasting CAH:
Salt-wasting CAH is the most severe form of the condition. For those with salt-wasting CAH, the adrenal glands do not produce enough aldosterone, a hormone responsible for regulating salt levels in the body. As a result, excessive sodium is lost through the urine. This leads to electrolyte imbalances and potentially life-threatening complications such as shock and coma. In addition to aldosterone deficiency, people with salt-wasting CAH also experience a cortisol deficiency and the excessive production of androgens, male sex hormones.
Simple-Virilizing CAH:
Simple-virilizing CAH, also known as non-salt wasting CAH, is a less severe form of the disorder. While those with simple-virilizing CAH cab also see a cortisol deficiency and excessive androgen production, the deficiency in aldosterone is less severe compared to salt-wasting CAH. As a result, the symptoms of simple-virilizing CAH can be less severe. They do not typically include life-threatening complications related to electrolyte imbalances. However, people with this subtype may still experience symptoms related to abnormal sexual development. This is because of the increase in androgens.
Symptoms
For both subtypes of CAH, there is a wide range of potential symptoms. They depend on sex, but usually include:
- Ambiguous genitalia for infants assigned female at birth
- Enlarged penis in infants assigned male at birth
- Premature signs of puberty
- Rapid growth
- Abnormal menstrual periods
- Infertility
- Noncancerous testicular tumors
For salt-wasting CAH, there are additional symptoms to watch for.
- Dehydration
- Low blood sodium
- Low blood pressure
- Low blood sugar
- Irregular heartbeat
- Vomiting
- Diarrhea
- Weight loss
Diagnosis and Treatment
Diagnosis of classic CAH typically occurs shortly after birth through newborn screening tests or clinical evaluation based on symptoms. Early diagnosis is important! It will lead to prompt treatment and help to prevent life-threatening complications.
Treatment for classic CAH involves lifelong hormone replacement therapy to replace deficient hormones. These include cortisol and aldosterone, and to suppress excessive androgen production. Medication dosages may need to be adjusted throughout life, especially during times of illness or stress.
The hypothalamic-pituitary-adrenal axis? Low cortisol? High androgens? What does it all mean?
Watch now: The science behind CAH: What’s going on in my body?
Congenital adrenal hyperplasia (CAH) can be overwhelming, but breaking it down can make it easier to understand what's happening in your body. Hormones monitored by your doctor are produced by several different organs that make up the HPA axis. The HPA axis is short for hypothalamic-pituitary-adrenal axis and in people with CAH, those organs don’t work together as they should. Learn more about the HPA axis and its role in this video.
Questions about CAH and how it affects the body? Visit WhatTheCAH to learn more. Sponsored by Neurocrine Biosciences, Inc.
Nonclassic CAH
Nonclassic CAH, also known as late-onset CAH, is a milder form of the disorder. It may not present symptoms until late childhood or early adulthood. It is often caused by mutations in the same genes responsible for classic CAH but may involve less severe enzyme deficiencies.
The most common cause is a deficiency in the enzyme 21-hydroxylase. This enzyme is necessary for the production of cortisol and aldosterone hormones. Without enough 21-hydroxylase, the adrenal glands are unable to properly regulate hormone levels. Cortisol and aldosterone build up and are then converted into androgens. This causes health problems.
Symptoms
As a less severe form of the disease, many people are unaware they have nonclassic CAH. Symptoms can include:
- Rapid growth
- Acne
- Early puberty
- Excess facial or body hair
- Irregular menstrual periods
- Male-pattern baldness
- Infertility
- Enlarged penis but small testicles
- Oily skin
- Body odor
Diagnosis and Treatment
Diagnosing nonclassic CAH typically involves blood tests to measure hormone levels, particularly adrenal steroids. An adrenocorticotropic hormone (ACTH) stimulation test may also be performed. This is where cortisol levels are measured before and after administration of ACTH.
Treatment is usually not necessary for people without symptoms. However, if symptoms such as acne, menstrual irregularities, excessive facial hair, or hair loss are present, doctors can prescribe medication to manage hormonal imbalances. Treatment options include:
- Hydrocortisone, a steroid medication, to replace deficient cortisol levels
- Birth control pills to regulate menstrual cycles and reduce androgen levels
- Anti-androgen medications like spironolactone to block the effects of male hormones
- Laser hair removal for excessive facial or body hair
- Fertility medications for individuals experiencing infertility
Unlike other forms of congenital adrenal hyperplasia, long-term medication may not be necessary. Treatment can often be tapered off as symptoms improve. However, any changes in medication should be made under the supervision of a healthcare professional.
Classic and nonclassic congenital adrenal hyperplasia are genetic disorders that affect hormone production in the adrenal glands. While classic CAH presents more severe symptoms from birth or early childhood, nonclassic CAH may have delayed onset and milder manifestations. Understanding the differences between the two forms of CAH is important for accurate diagnosis and appropriate management. Regular medical monitoring and timely intervention can help individuals with both classic and nonclassic CAH lead healthy and fulfilling lives.
Nearly 1 million people have joined the site. You can track your health, monitor the efficacy of treatment, and talk to people experiencing the same thing as you. Creating an account is free! Join today.