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Lurie Children’s Home Specialties & Conditions Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is a group of genetic conditions affecting small glands on top of the kidneys called adrenal glands. Each person usually has two adrenal glands which look like little triangles. These glands produce the following hormones which are essential for the body's growth and functioning:

  • Cortisol: Cortisol affects energy levels, sugar levels, blood pressure and the body’s response to illness or injury. Some people with CAH do not make enough cortisol, which can make them feel ill without treatment. 
  • Aldosterone: Aldosterone helps the body balance salt and water levels, which is important for maintaining a healthy blood pressure. Some people with CAH do not make enough aldosterone, which can cause low blood pressure. 
  • Androgens: Androgens are important for typical male sex development and puberty. The most common androgen is called testosterone. In some forms of CAH, the body is not able to make enough cortisol and aldosterone, but it makes extra androgens.

In CAH, the glands may not make enough of these hormones. The most common type of CAH is 21-hydroxylase deficiency, but there are other types as well.


Types of Congenital Adrenal Hyperplasia

The most common type is 21-hydroxylase deficiency CAH (sometimes abbreviated as 21-OHD). People with this type of CAH can't produce an enzyme called 21-hydroxylase. Without the 21-hydroxylase enzyme, individuals can make too much or too little of the three essential adrenal gland hormones. These hormones include cortisol, aldosterone, and androgens. There can be different forms of 21-OHD CAH, including classic and non-classic.

With the right care, children can lead full and healthy lives. Lurie Children’s specialists care for children with 21-OHD CAH as well as other less common types of CAH, such as: 

  • 11-beta hydroxylase deficiency
  • 17-alpha hydroxylase deficiency
  • 3-beta-hydroxysteroid dehydrogenase deficiency
  • Congenital lipoid adrenal hyperplasia
  • P450 oxidoreductase deficiency

Classic 21-OHD CAH

The classic form is the most severe and affects about 1 in 15,000 babies. It can be detected through newborn screening, which often helps to identify babies with this condition before they become seriously ill. People with classic 21-OHD CAH have “adrenal insufficiency,” meaning the adrenal glands can’t make enough aldosterone or cortisol.  Low levels of these hormones can lead to low blood pressure, low salt levels and low blood sugar. This can be urgent and infants may die without medical care.

The symptoms of classic 21-OHD CAH vary by age group. In babies, you may see these symptoms:

  • Drowsiness
  • Poor feeding
  • Pale skin
  • Poor growth
  • Abnormal newborn screening test results
  • Genital differences
    • When born, babies with chromosomes typically associated with female sex development (46,XX) may present with differences of the external genitalia. This happens because of excess of androgen production by the adrenal glands while the baby is in the uterus. The internal reproductive organs are not affected, and people born with this type of CAH are expected to have internal reproductive organs typical of a person with 46,XX chromosomes, like ovaries and a uterus. For more information regarding differences in the development of the external genitalia that occur among infants with female chromosomal sex (46,XX), please contact the Differences of Sex Development (DSD) Program. 

Non-Classic 21-OHD CAH (Milder Form)

Non-Classic CAH or NCCAH for short, is a milder form of CAH. This occurs in about 1 in 1,000 people. In NCCAH, people may not show symptoms until childhood or adulthood. It's not life-threatening, but symptoms like early puberty or irregular periods may appear. Treatment involves managing hormone levels. If a baby is known to be at risk for or to have NCCAH based on family history or parental screening, we recommend establishing care with an endocrinologist and/or genetic counselor during the first 6-12 months of life.

Treatment for Congenital Adrenal Hyperplasia

Depending on a child’s needs, treatment for CAH may include different medical departments including endocrinology, urology, psychology, and genetics. Our team at Lurie works together to provide ongoing support for each child and their families.

  • Education: Education about CAH is important for individuals living with CAH and their families. This can include learning more about medications, health maintenance and adrenal crisis. At Lurie we have dedicated health educators helping children and their families.
  • Medication: Children with 21-OHD CAH often need medication to replace hormones the adrenal glands have trouble making. Often these medications are needed throughout life.

Adrenal Crisis (Emergency Situation)

Adrenal crisis is a life-threatening emergency caused by the body not having enough cortisol. Certain situations such as a child being sick or needing surgery can increase the risk of adrenal crisis.

Signs and symptoms of adrenal crisis can include:

  • Weakness
  • Severe fatigue
  • Unintentional weight loss
  • Nausea and/or vomiting
  • Abdominal pain
  • Decreased appetite
  • Back or limb pain
  • Dizziness
  • Confusion
  • Loss of consciousness.
  • If untreated, it can lead to seizure, coma, or death. 

Adrenal Crisis Prevention and Treatment

  • Every person with adrenal insufficiency who is at risk of having an adrenal crisis should carry an emergency injection kit, which includes Solu-Cortef (hydrocortisone). This form of hydrocortisone can be given as a shot and is fast-acting. 
  • Every person with adrenal insufficiency should wear a Medical Alert emergency bracelet or necklace, which can help others identify a person’s needs in an emergency. 
  • If a person is exhibiting signs or symptoms of adrenal crisis, they should seek emergency medical assistance immediately. 
  • Please speak with your healthcare team regarding specific individual treatment plans/medication management during an adrenal crisis. 

If you are concerned that your child may be experiencing an adrenal crisis, please contact your child’s care team and seek the nearest emergency room.

  • In a medical emergency, dial 911. 
  • For non-urgent concerns, call the Division of Endocrinology: 312.227.6090

Genetics of Congenital Adrenal Hyperplasia

CAH is a genetic condition passed from carriers or people with CAH to their children, meaning a parent can pass CAH to their child. Genetic counseling is recommended to discuss the genetics of CAH, identify at-risk individuals, and coordinate diagnostic genetic testing. For more information or to schedule an appointment with a Division of Endocrinology genetic counselor, please call 312.227.6090.

Research

Lurie Children’s is involved in multiple research studies to better understand and treat CAH. Please see below for studies currently recruiting participants. For general questions, contact endocrineresearch@luriechildrens.org.

Congenital Adrenal Hyperplasia (CAH) Gene Therapy

A potential alternative to lifelong treatment with steroid medication and the goal of this first-in-human study is to provide patients with a working version of their otherwise non-working CYP21A2 gene. The purpose of this trial is to determine whether CYP21A2 Gene Therapy is safe, well-tolerated, and how it affects patients and their CAH over 5 years.

This study is for adults 18 years of age or older with a diagnosis of classic Congenital Adrenal Hyperplasia and currently treated with hydrocortisone.
 
Primary Investigator:  Courtney Finlayson, MD
Sub-investigators: Jax Whitehead, MD; Sarayu Ratnam, PhD; Allison Weisman, MS, CGC
Are you Currently Recruiting Participants for this Trial? YES
 
For more information, contact endocrineresearch@luriechildrens.org

A phase 2 study to evaluate the safety, efficacy, and pharmacokinetics of SPR001(tildacerfont) in pediatric and adult patients aged 2 years and above with Congenital Adrenal Hyperplasia

The purpose of this study is to look at the safety and efficacy of a new investigational drug Tildacerfont to reduce levels of adrenocorticotropic hormone (ACTH) in the body in pediatric and adult patients aged 2 years and above with CAH. So far, Tildacerfont has shown meaningful reductions of ACTH in adult patients with CAH.
 
Primary Investigator:  Courtney Finlayson, MD
Sub-investigators: Jax Whitehead, MD; Sarayu Ratnam, PhD; Denise McDaniel, RN; Abigail Dieguez, MD
Are you Currently Recruiting Participants for this Trial? YES

For more information, contact endocrineresearch@luriechildrens.org 

Resources & Support

At Lurie Children’s, we help children and families learn to navigate potential challenges this condition may present (medical, gender and growth, for example). We offer a team of endocrinologists, urologists, psychologists, genetic counselors, and health educators to support both patients and their families. 

View additional resources below:

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