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Congenital Adrenal Hyperplasia: Causes, Symptoms and Treatment

What is congenital adrenal hyperplasia?

Congenital adrenal hyperplasia (CAH) refers to a set of genetic disorders affecting the adrenal glands. Congenital refers to present from birth; adrenal is the gland and hyperplasia is a term used for denoting the overgrowth of an organ or tissue. Adrenal glands are present on the top of the kidneys. Usually, individuals with CAH lack an enzyme vital for the synthesis of hormones.

Congenital adrenal hyperplasia

The commonest form of CAH is called 21-hydroxylase deficiency, reported in 95% of cases. CAH affects about 1 in 10,000 to 18,000 children.

Causes

CAH is usually caused due to the absence of an enzyme 21-hydroxylase that is vital for adrenal glands normal functioning. Adrenal glands secrete hormones like:

  • Cortisol: A stress hormone that plays a role in blood sugar balance
  • Aldosterone: Important for kidney function

During CAH, the adrenals produce a lot of male hormones, androgens as a by-product.

CAH leads to an imbalance in these hormones that in turn lead to an array of symptoms in infants, kids and adults.

Risk Factors

  • The parents are carriers of genetic defect responsible for CAH
  • Both parents have CAH
  • Certain ethnic groups

Symptoms

CAH is recognised in two forms, and their symptoms are described below:

Classical CAH: It manifests due to the absence of both cortisol and aldosterone and can be fatal. It affects infants; the girls are born with an abnormal clitoris and genitourinary structures. The boys grow up unusually fast. In adults, early puberty leads to short height and premature growth and fertility issues. The other symptoms include

  • Dehydration
  • Weight loss
  • Vomiting

Nonclassical CAH: It is a mild form occurring due to the partial absence of enzymes that allows for cortisol and aldosterone production and leads to lower androgen production. Some individuals may not show any symptoms at all.

Symptoms also can include:

  • Premature pubic hair development
  • Severe acne
  • Irregular periods
  • Fertility issues
  • Hirsutism

Diagnosis

blood test

The doctor will conduct a physical exam and recommend:

  • Blood tests for serum electrolytes, renin, cortisol and aldosterone level assessment.
  • A urine test also can be recommended.
  • In case you are pregnant, prenatal tests can be done to screen CAH in your foetus.

Treatment

  • Medication: The standard line of therapy includes hormonal replacements to augment the missing hormones.
  • Surgery: In infant girls (2-6 months old), reconstructive surgery can be plausibly done to correct the ambiguous genital structure.
  • Prenatal therapy: In some instance, treatment can be initiated before the child is born, when CAH is diagnosed in the foetus.

Prevention

Genetic counselling is advised for parents with a family history of CAH.

Complications

The associated complications can include:

  • Low blood sugar
  • Low sodium
  • High blood pressure

Next Steps

Most children with CAH can manage their condition successfully by continuing their medications. They grow up to lead healthy lives. Individuals diagnosed with classic CAH must continue their medication lifelong and visit their doctor for regular check-ups.

Consult a top Gynaecologist

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References

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  • Congenital Adrenal Hyperplasia (CAH). National Adrenal Disease Foundation. http://www.nadf.us/adrenal-diseases/congenital-adrenal-hyperplasia-cah/. Accessed 8 Dec. 16.
  • Congenital adrenal hyperplasia. MedlinePlus. https://medlineplus.gov/ency/article/000411.htm. Accessed 8 Dec. 16.
  • Congenital Adrenal Hyperplasia. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/congenital-adrenal-hyperplasia/. Accessed 8 Dec. 16.

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