Congenital Adrenal Hyperplasia: Symptoms, Causes & Treatment

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Congenital adrenal hyperplasia (CAH) is an inherited adrenal gland disorder that prevents your child’s adrenal glands from producing adequate adrenal hormones, resulting in hormonal imbalance. As a result, your child may develop ambiguous genitalia and experience precocious puberty, developmental issues, and other serious disorders.

The adrenal glands, located above the kidneys, produce three types of hormones: cortisol, which regulates the energy, blood pressure, and blood glucose levels and aids in the recovery from severe diseases; aldosterone, which regulates the body’s salt and water levels; and androgen, which is responsible for the development of male traits.

Early diagnosis and treatment of CAH can help your child live a normal and healthy life (1). Read on to know about the types, symptoms, treatment, prognosis, and prevention of CAH in children.

Types Of CAH

In about 95 percent of cases of CAH, the adrenal glands lack an enzyme called 21-hydroxylase needed to process cortisol and aldosterone. CAH caused by this missing enzyme is also called the 21-hydroxylase deficiency.

The following are the two forms of 21-hydroxylase deficiency (1).

1. Classical CAH

  • It is the most severe form of the disease.
  • The body cannot produce cortisol and has issues regulating blood pressure, blood sugar, and the body’s response to illness or injury.
  • Many children with classical CAH cannot secrete aldosterone and cannot maintain adequate salt levels in their bodies.
  • The body produces more androgens than needed.
  • If not treated on time, issues with salt levels in the body may lead to fatal dehydration.

The classical CAH is further sub-classified into the following types (2).

  • Salt-wasting CAH: It is a more common and severe form. Babies with salt-wasting CAH lose too much sodium and water through urine, leading to increased potassium in the body, causing dehydration and very low blood pressure.
  • Simple-virilizing CAH: It is a less severe form and does not cause the body to lose sodium and water.

2. Non-classical CAH

  • It is the most common form of CAH but is mild in severity.
  • The cortisol production is unaffected, but androgens, such as testosterone and 17-hydroxyprogesterone, are produced in more than the required amounts.
  • Non-classical CAH has no impact on aldosterone production.

Signs And Symptoms Of CAH

The following are the signs and symptoms of classical CAH (1) (3).

  • Weight loss
  • Vomiting
  • Diarrhea
  • Severe dehydration
  • Low blood pressure
  • Heart problems
  • Coma
  • Life-threatening shock
  • Newborn males may have enlarged penis, and the scrotum may be more brownish.
  • Newborn females may have an unusual appearance or ambiguous genitalia (external genitalia may resemble male sex organs while they have normal internal sex organs such as uterus and ovaries)
  • Older children may hit puberty sooner than usual, have rapid growth, short height as adults, and problems with fertility.

The following are the signs and symptoms of non-classical CAH that may often be prominent as the baby grows older.

  • Early puberty
  • Oily skin
  • Excess Acne
  • Early development of armpit hair and pubic hair
  • Rapid growth during adolescence
  • Short height as adults
  • Irregular menstruation in women
  • Problems with fertility
  • Facial hair and deep voice in adolescent women

Causes And Prevalence Of CAH

CAH is a genetically transmitted disease. Babies born to parents who are both carriers of the mutated gene develop CAH.

CAH caused by 21-hydroxylase deficiency affects both girls and boys equally. One in 10,000 to 18,000 newborns is born with classical CAH. However, the non-classical form is more common (1).

Diagnosis Of CAH In Newborns

All infants born in the United States of America are screened for CAH by a blood test. If the newborn tests positive for CAH, the pediatrician may order additional blood tests to check for levels of serum electrolytes, aldosterone, renin, and cortisol.

The doctor might also order other diagnostic tests such as X-rays or ultrasounds of the abdomen and the pelvis to view the adrenal glands and the structure of the internal genitalia. In addition, X-rays of the left hand and wrist may show that the child’s bones appear to be those of someone older than their age (4). Genetic testing and analysis can confirm CAH but are rarely needed (1).

Treatment For CAH

The following are the different treatment plans for CAH (1) (2).

1. Medications

  • The baby will be prescribed oral medication/supplementation of cortisol or glucocorticoids such as hydrocortisone, prednisone, or dexamethasone.
  • The medication will replace missing cortisol and decrease the levels of androgens in the body.
  • If the baby is unable to make aldosterone, the doctor may prescribe a medicine as an aldosterone replacement.
  • During any kind of physical stress, such as an illness, injury, or in case of need of surgery, the child will need high doses of cortisol, which are called “stress doses.”
  • The stress dose might be needed in scenarios such as when the baby has a fever higher than 101°F, diarrhea, repeated vomiting, a major injury, or a need for surgery.
  • You must always have an emergency hydrocortisone kit at home. The kit has an injectable medicine with a syringe that the doctor will show how to use.
  • The doctor may also recommend that older toddlers wear a necklace or a bracelet that states “adrenal insufficiency.”
  • Since babies with CAH lack hormones, they will need different types of medications for life.

2. Surgical correction

  • Some female infants might need surgery to correct the atypical external genitalia.
  • The surgery can be done at the age of six months or later.

3. Additional therapies

  • Additional therapies may be needed to address potential complications of CAH, such as early puberty or growth disorders.
  • The doctor may advise therapies for suppression of puberty, or growth hormone might be recommended.
  • The child might be referred to specialists if they experience fertility problems once they grow up.
  • The pediatrician might also refer you to a nutritionist.

When the baby is young, they must see the pediatric endocrinologist every three to four months for blood tests, X-rays, and consultation. As the child grows older, they may not need to go to the doctor often.

Complications Of CAH

The following are some possible complications of CAH (1) (2) (4):

  • Advanced bone aging and osteoporosis
  • Increased body weight
  • Electrolyte imbalance
  • Insulin resistance and increased risk of type-2 diabetes
  • Increased blood pressure
  • Testicular adrenal rests tumors (TART)
  • Increased risk of a life-threatening adrenal crisis
  • Cysts and tumors, especially in ovaries (for girls) and pituitary

Long-Term Implications Of CAH

Children whose treatment begins on time reach normal adult height. Some individuals have problems with fertility, but it can be managed by treatment. It is essential to maintain the right balance of steroids during the treatment to avoid complications such as osteoporosis, hypertension, and obesity in adulthood (5).

Prevention Of CAH

Parents of a child with CAH must consider genetic counseling before planning another child. Prenatal diagnosis can be made in the first trimester by chorionic villus sampling. In the second trimester, it can be diagnosed by measuring the 17-hydroxyprogesterone hormone levels in the amniotic fluid (4).

Congenital adrenal hyperplasia is a genetic disorder preventing the normal production of adrenal hormones. Mutation in genes that code for enzymes making steroid hormones can cause this condition. Weight loss, diarrhea, vomiting, dehydration, and low blood pressure are some signs of adrenal hyperplasia in babies. Blood tests help to screen this condition in the newborn period. If left untreated, it can lead to early puberty, short height, and other issues in later life. Medications such as hormone replacements and surgical procedures are recommended to treat the condition.

Key Pointers

  • In congenital adrenal hyperplasia, the child’s adrenal glands cannot produce adequate adrenal hormones, resulting in hormonal imbalance.
  • In most cases, adrenal glands lack an enzyme called 21-hydroxylase required to process cortisol and aldosterone.
  • Severe dehydration, coma, enlarged penis, and unusual female genitalia are some symptoms of congenital adrenal hyperplasia.
  • Blood tests, X-rays, and ultrasounds are a few diagnostic tests that help detect the condition.
  • Medications, therapies, and surgeries are a part of the treatment plan for congenital adrenal hyperplasia.


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Dr. Dur Afshar Agha

Dr. Dur Afshar Agha is a consultant pediatrician with decades of experience in various medical facilities both in Pakistan and Saudi Arabia. She has headed the Department of Preventive Pediatrics at the prestigious, Children’s Hospital and Institute of Child Health in Pakistan and is a life member of the Pakistan Paediatric Association. She has also completed her Post Graduate Program... more

Dr. Ritika Shah

Dr. Ritika Shah is a dental surgeon with more than seven years of clinical experience across various cities in India. During her clinical practice, pediatric dentistry was her particular area of interest, and she constantly thrived to inculcate the latest advancements in the field of dentistry into her practice. She also holds a certificate in lactation counselling from iNational Health... more