Congenital adrenal hyperplasia
(Diseases)
On this page, you will find everything you need to know about Congenital Adrenal Hyperplasia (CAH).
What is Congenital Adrenal Hyperplasia (CAH)?
It is a group of rare inherited disorders affecting the adrenal glands (located above the kidneys). This condition results from a deficiency of certain enzymes responsible for producing important hormones such as cortisol and aldosterone, leading to hormonal imbalances that vary in severity and symptoms depending on the type and degree of enzyme deficiency.
What are the types of Congenital Adrenal Hyperplasia?Classic CAH):
There are two main types of CAH, classified by the severity of symptoms and age of onset:
- Classic CAH:
Diagnosed at birth or early childhood and subdivided into two subtypes:
- Salt-wasting type:
The most severe form, caused by a severe deficiency of aldosterone, resulting in excessive sodium loss in urine, increased potassium levels, and can be life-threatening if untreated, causing shock or coma.
- Simple virilizing type:
Less severe than salt-wasting, characterized by cortisol deficiency and increased androgen production, causing symptoms related to sexual development (e.g., enlarged external genitalia).
Non-classic CAH:
The milder and more common form, which may only appear in late childhood, adolescence, or early adulthood. It is characterized by increased androgen production leading to symptoms such as excess hair growth, menstrual irregularities, or early or delayed sexual development. This form is not life-threatening.
What are the symptoms of Congenital Adrenal Hyperplasia?
- Symptoms vary by type (classic or non-classic), severity, sex, and age at symptom onset:
- Classic CAH Symptoms:
- In newborns:
Females: External genital malformation.
- Males: Normal genitalia or enlarged penis.
- Additional symptoms in the the salt-wasting type:
- Vomiting.
- Dehydration.
- Weight loss or poor weight gain.
- Abnormal sodium and potassium levels (low sodium, high potassium).
Low blood sugar.
- Cardiac arrhythmia or shock.
- In older children and adolescents:
Rapid and early growth (though final adult height is shorter than average).
- Signs of early puberty: hair growth in armpits and pubic area, voice deepening in males and females, and muscle enlargement.
- In adults:
- Fertility issues.
- Irregular or absent menstrual cycles in females.
Excess body or facial hair.
Severe acne.
Non-classic CAH Symptoms:
- Symptoms usually begin in late childhood, adolescence, or adulthood:
- In females:
- Irregular or absent menstrual cycles.
- Excess facial and body hair.
Deepened voice.
- Mild enlargement of the clitoris.
- In males:
- Enlarged genitalia.
- Signs of early puberty.
- In both sexes:
Acne.
Rapid childhood growth with early cessation of growth.
- What causes Congenital Adrenal Hyperplasia?
- Inherited genetic defect: CAH is an autosomal recessive disorder caused by mutations in both copies of the responsible gene. If both parents carry the gene, there is a 25% chance the child will be affected.
- Enzyme deficiency: Leads to decreased cortisol and aldosterone and increased male hormones (androgens), causing various symptoms.
In rare cases, mutations may occur spontaneously (not inherited).
- How is Congenital Adrenal Hyperplasia diagnosed?
- Prenatal diagnosis:
- Amniocentesis: analyzing amniotic fluid to detect gene mutations.
- Chorionic villus sampling: testing placental cells for mutations.
- Newborn screening:
- Blood test from a heel prick to detect classic CAH at birth.
- Additional tests if genital abnormalities exist: chromosomal analysis, pelvic ultrasound.
- Diagnosis in children and adults:
- Physical exam, including blood pressure and symptom review.
- Blood and urine tests to check hormone and electrolyte levels, such as sodium and potassium.
- X-rays to assess bone growth.
- Genetic testing to confirm diagnosis and identify mutations.
- Biochemical tests for adrenal hormones like cortisol and aldosterone.
Ultrasound or imaging to examine internal genital structures.
How is Congenital Adrenal Hyperplasia treated?
Congenital adrenal hyperplasia is treated using several approaches, including:
- Medication:
- Hormone replacement:
- Glucocorticoids (e.g., hydrocortisone) to replace cortisol and normalize hormone levels.
- Mineralocorticoids (e.g., fludrocortisone) to replace aldosterone and maintain salt balance.
Salt supplements (sodium chloride): especially for newborns with the salt-wasting type.
Surgery:
Genital reconstructive surgery in females to improve function or appearance.
Treatment for non-classic CAH:
Some patients may not need treatment; mild cases often use low-dose glucocorticoids and may not require lifelong therapy.
How can Congenital Adrenal Hyperplasia be prevented?
- CAH cannot be fully prevented since it is a genetic condition. However, there are steps that can be taken to reduce the likelihood of disease transmission:
Genetic counseling: Recommended for parents with a family history or an affected child by consulting a geneticist, to understand the risks of passing the disease to offspring.
- Genetic testing: Screening parents to determine carrier status.
- Prenatal testing: Amniocentesis or chorionic villus sampling.
- What are the complications of Congenital Adrenal Hyperplasia?
Congenital adrenal hyperplasia can lead to a range of complications, including:
Adrenal crisis: Low cortisol and aldosterone can cause diarrhea, vomiting, dehydration, low blood sugar, seizures, shock, or coma.
- Electrolyte imbalances: Salt and water loss can leadAdrenal Crisisto dehydration, irregular heartbeat, or cardiac arrest.
- Growth and developmental problems:Boys: early puberty and short stature.Girls: masculinization, irregular menstrual cycles, infertility.
- Reproductive issues: Menstrual irregularities and reduced fertility.
- When should you see a doctor?
- At birth, if newborn screening detects CAH or external genital abnormalities are observed.
- In children, if signs of early puberty or concerns about growth and development arise.
In adults, if experiencing irregular menstrual cycles or difficulty conceiving.
- Planning or during pregnancy: If there is a family history or risk, consult a doctor for genetic counseling.
- Frequently Asked Questions:
- Why do patients with CAH need ongoing medical follow-up?
- Children with CAH require regular medical monitoring to check hormone levels, adjust medication doses, and some may need fertility support if affected.
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