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What is CAH?

The English name Congenital Adrenal Hyperplasia ( CAH ) refers to a group of genetic disorders affecting the adrenal glands. These glands are located in the kidneys and release the hormones the body needs to function. CAH is caused by three disorders:   

– Too little cortisol: The adrenal glands of babies with CAH cannot make enough cortisol. This hormone affects energy levels, blood sugar levels, blood pressure and the body’s response to stress, illness and trauma.  

– Too little aldosterone: In about three-quarters of the cases, infants with CAH cannot make enough of the hormone aldosterone, which helps the body maintain proper sodium (salt) levels and water that helps maintain blood pressure. 

– Too much androgen: In certain cases, infants with CAH produce too much male androgen hormone . Appropriate levels of these hormones are necessary for normal growth and development in both boys and girls.  

CAH can also cause an adrenaline hormone imbalance, affecting blood sugar, blood pressure and the body’s response to stress. 

The most common hormone imbalance in CAH cases is too little of a substance called 21-hydroxylase . The adrenal gland needs 21-hydroxylase to make the right amount of hormone. This type of CAH is sometimes called a 21-hydroxylase deficiency. In CAH due to a 21-hydroxylase deficiency, the adrenal gland cannot make enough cortisol or aldosterone. In addition, the glands produce too much androgen. People with 21-hydroxylase deficiency may also not produce enough adrenaline.    

A small number of CAH cases are caused by a deficiency of a substance similar to 21-hydroxyla se, called 11-hydroxylase. This type of CAH is sometimes referred to as 11-hydroxylase deficiency. In CAH due to an 11-hydroxylase deficiency, the adrenal glands produce too little cortisol and too much androgen. This type of CAH does not lead to aldosterone deficiency.   

Other very rare types of CAH include 3-betahydroxy-steroid dehydrogenase deficiency , CAH lipo id and 17-hydroxylase deficiency.

CAH can be classified into classic or non-classified based on severity:

– Classic CAH is heavier than the unsorted form . It can be life-threatening in newborns if not diagnosed. Classic CAH may be due to a lack of 21-hydroxylase or 11-hydroxylase.   

– Unclassified CAH is sometimes called late onset CAH. This is a milder form of disorder often diagnosed in early childhood or early adolescence. Sometimes people with CAH are not categorized and never know it. This form of CAH is almost always due to 21-hydroxylase deficiency. 

Figure 1. Location of adrenal glands and kidneys in the human body.

What causes congenital adrenal hyperplasia (CAH)?

CAH is caused by changes (mutations) in one of several genes. These changes result in a deficiency in 21-hydroxylase or, less commonly, 11-hydroxylase. Both are chemicals called enzymes. The adrenal glands need these enzymes to produce the right amount of hormones: cortisol, aldosterone, androgen and adrenaline.   

Figure 2. Inheriting a spontaneous diving disorder from a parent.

How is CAH inherited?

CAH genes are passed from parents to their children. In general, people have two copies of each gene in their body. They receive a copy from each parent . For infants to have CAH, both copies must have an error that affects the adrenal enzyme.   

CAH is an example of a spontaneous diving disorder :  

– Autosomal means that the gene is not on the X chromosome or the Y chromosome.

– Recessive means that both copies of the gene must be at fault for disease or disorder.

If both parents have CAH, all their children will have it. If each parent carries an affected gene and a normal gene (called a “carrier”), the chance that their children will have CAH is one in four (1/4) . 

What are the symptoms of congenital adrenal hyperplasia (CAH)?

Classic CAH

Classic CAH symptoms due to 21-hydroxylase deficiency (the most common CAH type) can be grouped into two categories according to their severity: simple salt wasting and virilizing (also known as unsalted waste. ).

The symptoms of classic CAH due to 11-hydroxylase deficiency are similar to simple CAH symptoms. About two-thirds of people who have a classic 11-hydroxylase deficiency also have high blood pressure (hypertension). 

– CAH wastes salt :  

Saline CAH is a serious form of classic 21 – hydroxylase deficiency . In this type of CAH, adrenal snow produces too little aldosterone, making it impossible for the body to hold enough sodium (salt). Too much sodium is lost in the urine (hence the name ” waste of salt”). If left undiagnosed, symptoms of CAH wasting classic salt appear days or weeks after birth and in some cases , death can occur.

Symptoms may include:

+ Dehydration

+ Poor feeding

+ Diarrhea

+ Vomiting

+ Heart rhythm problems (arrhythmia)

+ Low blood pressure

+ The concentration of sodium in the blood is very low

+ Low blood sugar

+ Too much acid in the blood, called metabolic acidosis

+ Weight loss

+ Shock, a condition of insufficient blood flow to the brain and other organs. Shock in babies with salt wastage is called an adrenal crisis. Signs include confusion, irritability, tachycardia and / or coma.  

Even with careful treatment, children with salt-wasting CAH are still at risk of adrenal crisis when they are ill or under physical stress. The body needs more than the usual amount of adrenal hormone during illness, injury or physical stress. This means that a child with CAH must receive additional medication during these times to prevent adrenal crisis.  

CAH’s salt waste is also associated with symptoms caused by low cortisol and high androgen. These symptoms may include: 

+ In female infants, the external genitalia may be vague, meaning it does not appear in typical women, with normal internal reproductive organs (ovaries, uterus and fallopian tubes).

+ Genital enlargement in male infants

+ The development of some qualities called virilization in boys or girls before normal puberty, sometimes as early as age 2 or 3. This is a condition characterized by:

– Rapid growth

– Pubic hair and armpit hair appear

– Deep voice

– No menstruation, or irregular or irregular menstruation (female)

– Muscles grow well

– Penis Enlargement (Male)

– Unusual small height, lower than normal when they grow into

– It is difficult to get pregnant (female)

– Excess facial hair (female)

– Early beard (male)

– Severe acne

– Benign and sterile testicle tumors (male)

Simple virilizing (without wasting salt) CAH 

CAH virilizing is simply a moderate form of the classic 21-hydroxylase deficiency. This type of CAH is associated with less serious aldosterone deficiency. Therefore, there are no symptoms of serious or life-threatening sodium deficiency in the newborn. Like CAH wasting salt, CAH virilizing simply involves too little cortisol and too much androgen. Female infants have vague genitalia and young children show virilization.    

 CAH not classified

Almost all unclassified CAH cases are caused by mild 21-hydroxylase deficiency. Most of the unclear CAH symptoms are related to androgen gain. Symptoms can appear in early childhood, adolescence or early adulthood.  

The triệu of CAH not classified evidence may include:

– Rapid growth in childhood and early childhood but shorter height than both parents

– Signs of early puberty

– Acne

– Irregular menstrual cycle (female)

– Reproductive problems (in about 10% to 15% of women)

– Excess facial or body hair in women

– Male pattern baldness (hair loss near the temples)

– Penis Enlargement (Male)

– Small testes (male)

Some people with CAH do not classify and never know it because the symptoms are very mild.

How do healthcare providers diagnose congenital adrenal hyperplasia (CAH)?

During pregnancy

If a couple has a child with CAH and the next pregnancy, her fetus has a quarter of the chance of getting CAH. For this reason, prenatal testing may be done for some types of CAH. A health care provider checks for disorders using techniques called amniocentesis or villus sampling.

– Amniocentesis was inserted . This involves inserting a needle into the uterus, through the abdomen, to draw a small amount of fluid from the sac surrounding the fetus. The procedure is usually done between the 15th and 20th week of pregnancy.   

– Sampling the chorionic villi . This is similar to amniocentesis. A health care provider inserts a needle into the uterus, through the abdomen or cervix, and extracts a small piece of tissue from the chorionic villi (the tissue that becomes the placenta). This procedure is usually done between 10 and 12 weeks of pregnancy.    

After the healthcare provider takes a sample using one of these techniques, he or she will perform genetic testing on the sample. This test will reveal whether the fetus has a genetic change that causes CAH. 

Parents can also choose to wait until birth to check up the newborn. Talking to their health care providers can help parents determine the right option for them. 

At birth

Newborn screening for CAH. Positive newborn babies need a follow-up test to confirm the diagnosis. If, for some reason, newborn screening is negative but highly suspicious for CAH (such as vague genitalia), further evaluation is also indicated.

Later in life

Infants who do not have unclear CAH symptoms and tests are performed on newborns who do not detect unclassified CAH. Unclassified CAH is diagnosed in childhood or adulthood, when symptoms appear. To diagnose unclassified CAH , health care providers can:  

– Ask if family members have CAH.

– Take a physical exam.

– Take blood and urine to measure hormone levels.

– Get genetic testing to determine if a patient has a genetic change that causes CAH.

X-rays can help diagnose CAH in children. Because some children with CAH grow too fast, their bones will grow more normal than they do in their age. 

 What are the treatments for congenital adrenal hyperplasia (CAH)?

Treatments for CAH include medications and surgery as well as psychological support.

=> Drug

* Classic CAH

Infants with classic CAH should start treatment very soon after birth to reduce the effects of CAH. Classic CAH is treated with steroids in place of low hormones.     

+ Babies and children often use a form of cortisol called hydrocortisone.

+ Adults taking hydrocortisone, hydrocortisone or dexamethasone also replace cortisol.

+ Patients with classic CAH also use another drug called fludrocortisone to replace aldosterone.

+ Eating salty foods or taking salt pills can also help those who waste salt store salt.

The body needs more cortisol when under physical stress. Adults and children with classic CAH need close medical care and may need extra medicine during this time. They may also need more medication if they:  

– Have a high fever.

– Underwent surgery.

– Maintain a major injury.

People with classic CAH should wear a medical alert identification bracelet or necklace. To alert health professionals in an emergency, the bracelet or necklace should clearly state : “adrenal insufficiency, hydrocortisone is required”. Adults or parents also need to learn how to inject hydrocortisone if there is an emergency.  

Patients with classic CAH need to take medication daily throughout their lives. If a patient stops taking the medication, the symptoms will return. 

The body makes different amounts of cortisol at different times in life, so sometimes a patient’s dose may be too high or too low. Taking too many medications to replace cortisol can cause symptoms of Cushing’s syndrome. Including:  

– Weight gain

– Slow growth

– Stretch marks

– Round face

– High Blood Pressure

– Bone loss

– High blood sugar

It is important to notify your health care provider if these symptoms appear so they can adjust their dose.

* CAH not classified 

People with unclear CAH may not need treatment if they have no symptoms. People with symptoms are given a low dose of the same type of cortisol to replace the medicine used by people with classic CAH. 

The symptoms of unclear CAH signaling that the patient may need treatment are:

+ Puberty early

+ Excess body hair

+ Irregular menstrual cycle (female)

+ Dry

Patients with unsorted CAH can stop the drug when they mature if their symptoms go away.

=> Surgery

* Classic CAH

Girls who are born with vague genitalia may need surgery. For example, surgery is necessary if genital changes have affected the urine flow. 

Surgery to treat classic CAH should be done by an experienced surgeon who is specialized in this particular type of surgery. Parents may want to consider surgery for their child in childhood, or they may want to delay until later in childhood. Parents should work with their child’s health care providers to determine the best treatment period.  

Parents may also want to find a psychologist, social worker or other mental health professional to assist them in making decisions. It is important to find an experienced mental health provider that includes working with children with CAH and their special needs. 

* CAH not classified

C wicked girls with CAH are not classified with normal genitals, so they do not need surgery.

 References :

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  3. Texas Department of State Health. (2001). Congenital adrenal hyperplasia: A handbook for parents . Retrieved June 26, 2012, from
  4. NICHD, NIH News Notices. (2006, February 19). People with common masculine disorders also lack adrenaline, NICHD research shows . Retrieved May 3, 2012, from
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  6. United States National Library of Medicine. (2011). Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Retrieved March 2, 2018, from the Clinical Center. (nd) Patient education: Facts about CAH. Retrieved April 25, 2012       
  7. Refer to Medscape. (2011). Lack of C-11 Hydroxylase. Retrieved June 16, 2012, from
  8. NIH clinical center. (nd) Patient education: Facts about CAH. Retrieved April 25, 2012 from – 752 KB)    
  9. National adrenal organization. (the second time). Congenital adrenal disease education Congenital adrenal hyperplasia (CAH): Facts you need to know. Retrieved June 16, 2012, from
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