21-hydroxylase deficiency (patient information)

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Jinhui Wu, MD

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What is congenital adrenal hyperplasia due to 21-hydroxylase deficiency?

How do I know if I have congenital adrenal hyperplasia due to 21-hydroxylase deficiency and what are the symptoms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency?

Adrenal crisis: In this form of congenital adrenal hyperplasia, newborns develop severe symptoms shortly after birth due to loss of salt.

Girls: Girls will usually have normal internal female reproductive organs as normal girls. But some of their external appearance may change.

  • Abnormal menstrual periods or failure to menstruate
  • Ambiguous genitalia, often appearing more male than female
  • Masculine characteristics: Deep voice, early appearance of pubic and armpit hair, excessive hair growth and facial hair

Boys: Boys won't have any obvious problems at birth. However, they may have 2~3 years early masculine characteristics than normal boys.

  • Deep voice
  • Early appearance of pubic and armpit hair
  • Enlarged penis
  • Small testes
  • Well-developed muscles

Who is at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency?

How to know you have congenital adrenal hyperplasia due to 21-hydroxylase deficiency?

When to seek urgent medical care?

Treatment options

Diseases with similar symptoms

Where to find medical care for congenital adrenal hyperplasia due to 21-hydroxylase deficiency?

Directions to Hospitals Treating congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Prevention of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

What to expect (Outook/Prognosis)?

Copyleft Sources

http://www.mayoclinic.com/print/congenital-adrenal-hyperplasia/DS00915/METHOD=print&DSECTION=all

http://ghr.nlm.nih.gov/condition=21hydroxylasedeficiency

http://www.nlm.nih.gov/medlineplus/ency/article/000411.htm

http://www.magicfoundation.org/www/docs/100/congenital_adrenal_hyperplasia.html

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