The Basics of Congenital Adrenal Hyperplasia

The adrenal glands are supposed to be kept healthy in order for it to function of releasing hormones into ones’ bloodstream. However, several disorders may just affect the adrenal glands. One of these disorders would be congenital adrenal hyperplasia or CAH. In the US alone, 1 in 15,000 infants is born with this disorder[1] while in the European countries, 1 in 12,000 babies is affected[2]. Nevertheless, congenital adrenal hyperplasia is less common in individuals with Asian or African-American descent.[3]

What is Congenital Adrenal Hyperplasia?

Congenital adrenal hyperplasia or also known simply as CAH is defined as a group or cluster of hereditary genetic disorders that usually affect the adrenal glands. When an individual has congenital adrenal hyperplasia, he or she lacks an enzyme that is needed by the adrenal glands to create hormones that aid in regulating metabolism, blood pressure, the immune system, as well as other essential bodily functions.

Congenital adrenal hyperplasia comes in two main forms – the non-classic and the classic forms[4].

Causes of Congenital Adrenal Hyperplasia

Primarily, congenital adrenal hyperplasia is caused by a lack of an enzyme needed by the adrenal glands to produce the right amount of hormones. In about 95% of cases, the lacking enzyme is noted to be 21-hydroxylase, which is why congenital adrenal hyperplasia is sometimes also referred to as 21-hydroxylase deficiency.4 That said, there are also other rare enzyme deficiencies, which may cause congenital adrenal hyperplasia.

Congenital adrenal hyperplasia may be passed in a hereditary pattern termed as autosomal recessive.[5] This means that individuals who have parents that are both carriers of the mutated gene or either who may have congenital adrenal hyperplasia themselves may be at risk of developing the disorder as well.

Symptoms of Congenital Adrenal Hyperplasia

There are varying signs and symptoms for disorders like congenital adrenal hyperplasia. Symptoms will vary depending on the defective gene the individual has as well as his or her enzyme deficiency level.

For individuals with the classic form of congenital adrenal hyperplasia signs and symptoms will be different for infants as well as children and adults.

For individuals with the non-classic form of congenital adrenal hyperplasia include:

Possible Treatments for Congenital Adrenal Hyperplasia

For congenital adrenal hyperplasia, possible treatments may include medications and/or surgery.

The main type of treatment for the classic type of congenital adrenal hyperplasia is medication via hydrocortisone pills. Hydrocortisone pills should help in replacing the cortisol that an infant’s body cannot produce naturally. Additional medication treatment may be required for individuals who have salt-wasting form congenital adrenal hyperplasia. This medication is fludrocortisone. Fludrocortisone is given to compensate lacking aldosterone in the body. Supplemental human growth hormones may also be prescribed to aid in regulating the child’s natural growth.

As for surgery, it may be advised for those who are experiencing issues with their genitalia.[6] Genital surgery is a complex option, which needs to be discussed thoroughly with the family and the patient’s doctor.

[1] Congenital Adrenal Hyperplasia (CAH). Michigan Medicine University of Michigan. http://www.med.umich.edu/yourchild/topics/cah.htm

[2] Congenital adrenal hyperplasia. You and Your Hormones: An Education Resource from the Society for Endocrinology. http://www.yourhormones.info/endocrine-conditions/congenital-adrenal-hyperplasia/

[3] Congenital Adrenal Hyperplasia. Baby’s First Test. https://www.babysfirsttest.org/newborn-screening/conditions/congenital-adrenal-hyperplasia

[4] Congenital adrenal hyperplasia. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/congenital-adrenal-hyperplasia/symptoms-causes/syc-20355205

[5] Congenital Adrenal Hyperplasia. NORD National Organization for Rare Disorders. Nord and Speiser, P. W. MD, Chief, Division of Pediatric Endocrinology, Cohen Children's Medical Center of NY; Professor of Pediatrics, Hofstra North Shore LIJ School of Medicine. https://rarediseases.org/rare-diseases/congenital-adrenal-hyperplasia/

[6] Congenital adrenal hyperplasia. NIH National Center for Advancing Translational Sciences. GARD Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/1467/congenital-adrenal-hyperplasia

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