Congenital Adrenal Hyperplasia
What is Congenital Adrenal Hyperplasia?
Congenital Adrenal Hyperplasia (CAH) roughly translates to enlargement of the adrenal gland in childhood. This enlargement happens because the body is deficient in adrenal hormones and the adrenal gland receives increased stimulation to produce them. Medically, CAH is a group of genetic disorders affecting the adrenal glands, which are responsible for producing hormones such as cortisol, aldosterone, and androgens. The most common form of CAH is due to a deficiency of the enzyme 21-hydroxylase (~95% of cases), which is crucial for cortisol and aldosterone synthesis. Two other enzymes, 17 α-hydroxylase and 11 β-hydroxylase, can serve as the root cause of CAH as well. The set of symptoms experienced depends on the deficient enzyme. There is a classic and non classic type of CAH. Classic CAH is rare, early onset, and more serious while non-classic CAH is relatively more common and mild in presentation. Classic CAH, as a rare genetic disease, will be the focus of this summary.
Synonyms
- Androgenital Syndrome
- 21-hydroxylase deficiency
- 17α-hydroxylase deficiency
- 11 β-hydroxylase deficiency
Congenital Adrenal Hyperplasia (CAH) roughly translates to enlargement of the adrenal gland in childhood. This enlargement happens because the body is deficient in adrenal hormones and the adrenal gland receives increased stimulation to produce them. Medically, CAH is a group of genetic disorders affecting the adrenal glands, which are responsible for producing hormones such as cortisol, aldosterone, and androgens. The most common form of CAH is due to a deficiency of the enzyme 21-hydroxylase (~95% of cases), which is crucial for cortisol and aldosterone synthesis. Two other enzymes, 17 α-hydroxylase and 11 β-hydroxylase, can serve as the root cause of CAH as well. The set of symptoms experienced depends on the deficient enzyme. There is a classic and non classic type of CAH. Classic CAH is rare, early onset, and more serious while non-classic CAH is relatively more common and mild in presentation. Classic CAH, as a rare genetic disease, will be the focus of this summary.
The estimated prevalence is about 1 in 10,000 to 1 in 15,000 live births for all forms of classic CAH.
| Name | Abbreviation |
|---|---|
| Androgenital Syndrome | AS |
| 21-hydroxylase deficiency | |
| 17α-hydroxylase deficiency | |
| 11 β-hydroxylase deficiency |
CAH is inherited in an autosomal recessive manner, which requires each parent to pass down a mutated copy of the gene (see RareShare Guide on Genetic Inheritance). CAH can be caused by a deficiency in any of the following enzymes: 21-hydroxylase, 17 α-hydroxylase, 11 β-hydroxylase. These enzymes all function at different points in the pathway responsible for aldosterone, cortisol, and androgen synthesis. If an enzyme is deficient, the pathway becomes shunted towards a viable alternative. Most cases are caused by an autosomal recessive mutation in the CYP21A2 gene coding for 21-hydroxylase. Without the function of 21-hydroxylase, the adrenals are unable to produce aldosterone and cortisol. The pathway becomes shunted towards androgen production. 11 β-hydroxylase (CYP11B1 gene) deficiency yields similar results due to its adjacent position in the pathway. 17 α-hydroxylase (CYP17A1 gene) deficiency, on the other hand, renders the adrenals unable to produce cortisol and androgen hormones. In this case, the pathway becomes shunted towards aldosterone production.
21-hydroxylase deficiency has two forms: salt wasting and simple virilization
Salt wasting form-
-
In female newborns, external genitalia can be ambiguous, i.e., not typical female appearing, with normal internal reproductive organs (ovaries, uterus, and fallopian tubes)
-
Enlarged genitalia in male newborns
-
Development of certain sexual characteristics in boys or girls before the normal age of puberty, sometimes as early as age 2 or 3, is called virilization. This is a condition characterized by:
-
Rapid growth
-
Appearance of pubic and armpit hair
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Deep voice
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Failure to menstruate, or abnormal or irregular menstrual periods (females)
-
Well-developed muscles
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Enlarged penis (males)
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Unusually tall height as children, but being shorter than normal as adults
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Possible difficulties getting pregnant (females)
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Excess facial hair (females)
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Early beard (males)
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Severe acne
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Benign testicular tumors and infertility (males)
-
-
Dehydration
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Poor feeding
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Diarrhea
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Vomiting
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Heart rhythm problems (arrhythmias)
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Low blood pressure
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Very low blood sodium levels
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Low blood glucose
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Too much acid in the blood, called metabolic acidosis
-
Weight loss
-
Shock, a condition where not enough blood gets to the brain and other organs. Shock in infants with salt-wasting is called adrenal crisis. Signs include confusion, irritability, rapid heart rate, and/or coma
Simple Virilization form-
Simple virilizing classic CAH is a milder form of the salt wasting type. The aldosterone deficiency is less severe so children tend not to have life threatening episodes of low sodium. In terms of reproductive characteristics, simple virilizing classic CAH also shows androgen dependent effects. Symptoms such as ambiguous genitalia in females, enlarged genitals in males, and early virilization are seen here as well.
11 β-hydroxylase deficiency symptoms are similar to those of simple virilizing classic CAH.
17 α-hydroxylase- (not recognized at birth)
-
High blood pressure
-
Low potassium
-
Delayed puberty (XX Females)
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Absent menstruation (XX Females)
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Lack secondary sexual characteristics like breasts, wide hips, pubic hair (XX Females)
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Abdominal mass or inguinal hernia due to undescended testes (XY Males)
-
Blind pouch in place of vaginal canal (XY Males)
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Lack of internal female sexual structures (XY Males)
-
Ambiguous or small male genitals (XY Males)
-
Breast development (XY Males)
-
Prenatal Testing: amniocentesis or chorionic villus sampling (at risk fetus)
-
Newborn Screening: elevated 17-hydroxyprogesterone (21-hydroxylase deficiency) (sample taken between 2-4 days of age)
-
Clinical evaluation:
- enlarged clitoris, fusion of labia majora in female newborns
- possible enlarged penis and scrotum in males
- low blood pressure (21-hydroxylase deficiency), high blood pressure (17 α-hydroxylase, 11 β-hydroxylase deficiency)
- early puberty in males, delayed/absent puberty in females
- females show androgenic symptoms such as facial hair (hirsutism) -
Imaging:
- ultrasound/MRI to visualize undescended testes in males and internal reproductive structures in females
- abnormal adrenal ultrasound -
Blood test: elevated 17-hydroxyprogesterone/androstenedione ratio (17 α-hydroxylase deficiency), elevated 11-deoxycortisol (11 β-hydroxylase deficiency), low aldosterone and cortisol with elevated androgens (21-hydroxylase and 11 β-hydroxylase deficiency), high aldosterone with low cortisol and androgens (17 α-hydroxylase deficiency), elevated ACTH
-
Genetic testing: karyotype (confirm sex chromosomes)
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Specialized tests: low/absent response on cosyntropin ACTH stimulation test
There is no cure for congenital adrenal hyperplasia. Management focuses on replacing deficient hormones and addressing reproductive/sexual symptoms
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Hydrocortisone to replace cortisol
-
Fludrocortisone to replace aldosterone in salt wasting forms
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Spironolactone or Eplerenone (17 α-hydroxylase deficiency and 11 β-hydroxylase deficiency)
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Salt supplementation in salt wasting forms
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Hormonal androgen replacement (17 α-hydroxylase deficiency)
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Genital reconstruction surgery (severely virilized females)
With appropriate long term management, people with CAH can lead active and fulfilling lives. Life expectancy is normal with a slight increase in mortality risk largely due to adrenal crises. In terms of development, final adult height is often reduced by about 1 standard deviation compared to genetic potential, even with treatment. There is an increased risk of obesity, hypertension, insulin resistance, and osteoporosis. Regular monitoring including bone density testing is important. Fertility is largely preserved in males (low sperm count is possible), while female fertility rates have improved due to advancements in treatment. CAH is associated with a high psychological burden with elevated risk of anxiety and depression. Patients should seek counseling regarding gender identity and reproductive/sexual development.
Chormanski, D., & Muzio, M. R. (2021). C 17 Hydroxylase Deficiency. PubMed; StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK546644/
Cleveland clinic. (2022). Congenital adrenal hyperplasia: Symptoms, causes, treatments. Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/17817-congenital-adrenal-hyperplasia
What are the symptoms of congenital adrenal hyperplasia (CAH)? (n.d.). Https://Www.nichd.nih.gov/. https://www.nichd.nih.gov/health/topics/cah/conditioninfo/symptoms
Last updated 12 Jul 2022, 10:40 AM
12 Jul 2022, 10:40 AM
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Last updated 15 Dec 2021, 06:30 PM
15 Dec 2021, 06:30 PM
Hi,
Our 6 day old son has been diagnosed with CAH. I was just wondering if there is anyone out there that can tell
me what life is like with this condition and does it affect you in anyway that stops you from doing anything. Any information from a personal perspective would be much appreciated.
Gina
Last updated 20 Jan 2021, 01:39 AM
20 Jan 2021, 01:39 AM
Hi, my name is Jay Desai and I am currently a research assistant at the National Institutes of Health Clinical Center. My lab focuses primarily on studying Congenital Adrenal Hyperplasia (CAH), an autosomal recessive disorder affecting the adrenal steroidogenesis pathway. As a research assistant, I have had the opportunity to meet with patients during clinic visits (currently telehealth) and observe the clinical features associated with the disease. One of these clinical features being the hormone effects associated with excess androgen production.
These hormone effects include acne, weight gain, and hirsutism. While these effects may be prevalent in all those who have the disorder, I am interested in learning how these effects may uniquely impact South Asian women. As a South Asian male, I am aware of the many stringent beauty standards that women in my society face. Furthermore, I recognize the negative consequences that misinformation may construe - especially about sensitive subject material such as excess androgen symptoms in women. As a result, my best friend, Jahnavi Kola, and I are aiming to create a website to share stories from South Asian women affected by CAH and other excess androgen disorders. Ultimately, we hope to shed light on these issues in efforts to not only empower South Asian women affected by this disease but anyone facing pressure to conform to mainstream norms. Are there any of you who would be willing to set up a call to talk about your experiences? If you do not have a South Asian background, we would still love to hear about your experience. Everything you say will be confidential if you so prefer and will not be published without your consent. If interested, please reach out to me at jayhemant@gmail.com or Jahnavi Kola at jahnavi.kola98@gmail.com. Thank you.
Clinical Trials
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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Hello out there!
Created by Gabs143 | Last updated 12 Jul 2022, 10:40 AM
Living with CAH
Created by Gina08 | Last updated 15 Dec 2021, 06:30 PM
CAH in the South Asian Population
Created by jayhemant | Last updated 20 Jan 2021, 01:39 AM
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