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Congenital Adrenal Hyperplasia


Congenital adrenal hyperplasia or CAH is the defect of the adrenal glands by birth. The kid or adult suffering from this disease fails to produce two vital hormones corticosteroids and aldosterone or both. It may also be said to encompass a group of the autosomal recessive disorders.

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Congenital adrenal hyperplasia is mostly caused due to mutation of certain genes for enzymes which may lead to autosomal recessive diseases. The disease may lead to formation of excessive or deficient production of the sex steroids. This can also alter the overall development of the primary or the secondary sex characteristics in the patient. 

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Signs & Symptoms

Most of the time, the symptoms may depend upon the gender of the patient.

  • The patient may develop the tendency to vomit due to excessive wasting of salt by the body of the patient and inadequate production of mineralocorticoids.
  • This process of salt wasting may lead to dehydration and death of the patient.
  • The patient may also suffer from hypertension. 
  • Due to excessive production of androgens some of the female patients have ambiguous genitalia, which make it difficult to determine the sex of the female patient. 
  • The patient may also suffer from early pubic hairs and rapid growth in childhood.
  • The patient may also suffer from infertility due to anovulation.
  • There may be presence of excessive facial hair in the adolescence.
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The patient suffering from congenital adrenal hyperplasia has to be extra careful from illness and injury. Regular visits to the endocrinologist are compulsory for the patient.

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Hormonal Replacement Therapy Modern Medicine

The congenital adrenal hyperplasia is treated with certain hormonal replacement therapy to make out for the missing hormones in the body. Florinef and Cortef are the drugs of choices. Glucocorticoid may be administered to reduce hyperplasia and overproduction of the mineralocorticoids and androgens. Salt may be advised to be taken from above if the person is deficient in it. Replacements of the testosterone and estrogen are also provided at puberty, if required. Genital reconstructive surgery is also done to rectify the abnormal structure of the genitals of the patient.

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