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Congenital Adrenal Hyperplasia

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Acute

What is Congenital Adrenal Hyperplasia?

Congenital adrenal hyperplasia (CAH) refers to a group of disorders that arise from defective steroidogenesis. The production of cortisol in the zona fasciculata of the adrenal cortex occurs in five major enzyme-mediated steps. CAH results from deficiency in any one of these enzymes

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  • Rapid growth in childhood and early teens but shorter height than both parents.
  • Early signs of puberty.
  • Acne.
  • Irregular menstrual periods (females)
  • Fertility problems (in about 10% to 15% of women)
  • Excess facial or body hair in women.
  • Male-pattern baldness (hair loss near the temples)
  • Enlarged penis (males)

Classic CAH causes the body to produce an insufficient amount of cortisol. This can cause problems maintaining normal blood pressure, blood sugar and energy levels, and cause problems during physical stress such as illness. Adrenal crisis

The most common cause of CAH is a genetic mutation (change) in the 21-hydroxylase enzyme. The adrenal gland needs 21-hydroxylase to make appropriate amounts of hormones. If someone doesn't have enough 21-hydroxylase, called 21-hydroxylase deficiency, this can result in decreased cortisol production.

The most common cause of CAH is the lack of the enzyme known as 21-hydroxylase. CAH may sometimes be called 21-hydroxylase deficiency. This enzyme is required by the body to make proper amounts of hormones. There are other much rarer enzyme deficiencies that also cause CAH

You can't prevent congenital adrenal hyperplasia (CAH) because it's a genetic condition. If you have a family history of CAH or you already have a child with CAH, you may want to consider genetic counseling and/or genetic testing. You can learn about your risk of passing on the condition to your children

How is it diagnosed?

How is it diagnosed?
  • Infants and children usually take a form of cortisol called hydrocortisone.
  • Adults take hydrocortisone, prednisone, or dexamethasone, which also replace cortisol.
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How is it treated?

Treatment for acute myeloid leukemia is vital. It varies with the patient and stage of the disease. Treatment options include

  • Amniocentesis. This procedure involves using a needle to withdraw a sample of amniotic fluid from the womb and then examining the cells.
  • Chorionic villus sampling. This test involves withdrawing cells from the placenta for examination.

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    Experience8years

    QualificationMBBS, MS (General surgery), MCh Endocrine and Breast Surgery (SGPGIMS Lucknow)

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