Learn About Congenital Adrenal Hyperplasia (CAH)

What is the definition of Congenital Adrenal Hyperplasia (CAH)?

Congenital adrenal hyperplasia is the name given to a group of inherited disorders of the adrenal gland.

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What are the alternative names for Congenital Adrenal Hyperplasia (CAH)?

Adrenogenital syndrome; 21-hydroxylase deficiency; CAH

What are the causes of Congenital Adrenal Hyperplasia (CAH)?

People have 2 adrenal glands. One is located on top of each of their kidneys. These glands make hormones, such as cortisol and aldosterone, that are essential for life. People with congenital adrenal hyperplasia lack an enzyme the adrenal glands need to make the hormones.

At the same time, the body produces more androgen, a type of male sex hormone. This causes male characteristics to appear early (or inappropriately).

Congenital adrenal hyperplasia can affect both boys and girls. About 1 in 10,000 to 18,000 children are born with congenital adrenal hyperplasia.

What are the symptoms of Congenital Adrenal Hyperplasia (CAH)?

Symptoms will vary, depending on the type of congenital adrenal hyperplasia someone has, and their age when the disorder is diagnosed.

  • Children with milder forms may not have signs or symptoms of congenital adrenal hyperplasia and may not be diagnosed until as late as adolescence.
  • Girls with a more severe form often have masculinized genitals at birth and may be diagnosed before symptoms appear.
  • Boys will appear normal at birth, even if they have a more severe form.

In children with the more severe form of the disorder, symptoms often develop within 2 or 3 weeks after birth.

  • Poor feeding or vomiting
  • Dehydration
  • Electrolyte changes (abnormal levels of sodium and potassium in the blood)
  • Abnormal heart rhythm

Girls with the milder form will usually have normal female reproductive organs (ovaries, uterus, and fallopian tubes). They may also have the following changes:

  • Abnormal menstrual periods or failure to menstruate
  • Early appearance of pubic or armpit hair
  • Excessive hair growth or facial hair
  • Some enlargement of the clitoris

Boys with the milder form often appear normal at birth. However, they may appear to enter puberty early. Symptoms may include:

  • Deepening voice
  • Early appearance of pubic or armpit hair
  • Enlarged penis but normal testes
  • Well-developed muscles

Both boys and girls will be tall as children, but much shorter than normal as adults.

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What are the current treatments for Congenital Adrenal Hyperplasia (CAH)?

The goal of treatment is to return hormone levels to normal, or near normal. This is done by taking a form of cortisol, most often hydrocortisone. People may need additional doses of medicine during times of stress, such as severe illness or surgery.

The provider will determine the genetic sex of the baby with abnormal genitalia by checking the chromosomes (karyotyping).

Steroids used to treat congenital adrenal hyperplasia do not usually cause side effects such as obesity or weak bones, because the doses replace the hormones that the child's body cannot make. It is important for parents to report signs of infection and stress to their child's provider because the child may need more medicine. Steroids cannot be stopped suddenly because doing so may lead to adrenal insufficiency.

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What are the support groups for Congenital Adrenal Hyperplasia (CAH)?

These organizations may be helpful:

  • National Adrenal Diseases Foundation -- www.nadf.us
  • The MAGIC Foundation -- www.magicfoundation.org
  • The CARES Foundation -- caresfoundation.org
What is the outlook (prognosis) for Congenital Adrenal Hyperplasia (CAH)?

People with this disorder must take medicine their entire life. They most often have good health. However, they may be shorter than normal adults, even with treatment.

In some cases, congenital adrenal hyperplasia can affect fertility.

What are the possible complications of Congenital Adrenal Hyperplasia (CAH)?

Complications may include:

  • High blood pressure
  • Low blood sugar
  • Low sodium
How do I prevent Congenital Adrenal Hyperplasia (CAH)?

Parents with a family history of congenital adrenal hyperplasia (of any type) or a child who has the condition should consider genetic counseling.

Prenatal diagnosis is available for some forms of congenital adrenal hyperplasia. Diagnosis is made in the first trimester by chorionic villus sampling. Diagnosis in the second trimester is made by measuring hormones such as 17-hydroxyprogesterone in the amniotic fluid.

A newborn screening test is available for the most common form of congenital adrenal hyperplasia. It can be done on heel stick blood (as part of the routine screenings done on newborns). This test is currently performed in most states.

Adrenal glands
What are the latest Congenital Adrenal Hyperplasia (CAH) Clinical Trials?
An Open, Randomized, Long-Term Clinical Trial of Flutamide, Testolactone, and Reduced Hydrocortisone Dose vs. Conventional Treatment of Children With Congenital Adrenal Hyperplasia

Summary: This study was developed to determine if a combination of four drugs (flutamide, testolactone, reduced hydrocortisone dose, and fludrocortisone) can normalize growth in children with congenital adrenal hyperplasia. The study will take 60 children, boys and girls and divide them into 2 groups based on the medications given. Group one will receive the new four- drug combination. Group two will recei...

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A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Crinecerfont (NBI-74788) in Adult Subjects With Classic Congenital Adrenal Hyperplasia, Followed by Open-Label Treatment

Summary: This is a Phase 3 study to evaluate the efficacy, safety, and tolerability of crinecerfont versus placebo administered for 24 weeks in approximately 165 adult participants with classic CAH due to 21-hydroxylase deficiency. The study consists of a 6-month randomized, double-blind, placebo-controlled period, followed by 1 year of open-label treatment with crinecerfont. Subsequently, participants may...

What are the Latest Advances for Congenital Adrenal Hyperplasia (CAH)?
Successful assisted reproductive technology treatment for a woman with 46XX-17α-hydroxylase deficiency: A case report.
Unilateral or bilateral adrenalectomy in PPNAD: six cases from a single family followed up over 40 years.
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Management of Acute Adrenal Insufficiency-Related Adverse Events in Children with Congenital Adrenal Hyperplasia: Results of an International Survey of Specialist Centres.
Who are the sources who wrote this article ?

Published Date: November 01, 2021
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Donohoue PA. Disorders of sex development. In: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 606.

Newell-Price, JDC, Auchus RJ. The adrenal cortex. In: Melmed S, Auchus, RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Textbook of Endocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020:chap 15.