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Diseases

Genetic and Rare Diseases Information Center (GARD)

Polycystic ovarian syndrome

*

* Not a rare disease

Other Names for this Disease
  • PCOS
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Your Question

I have been diagnosed with polycystic ovarian syndrome (PCOS), but the medication I am taking does not seem to be working. I recently learned that late-onset congenital adrenal hyperplasia can be misdiagnosed as PCOS in some women. Can you help me find information on PCOS and late-onset congenital adrenal hyperplasia?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Can polycystic ovarian syndrome be distinguished from non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency?

It can be difficult to determine whether a person has polycystic ovarian syndrome or non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) because the symptoms for these conditions are very similar. However, people with NCAH usually have high levels of 17-hydroxyprogesterone in their blood.[1]
Last updated: 10/20/2015

How is non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency diagnosed?

A diagnosis of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This may include a blood test to measure the concentration of 17-hydroxyprogesterone (17-OHP) and/or an adrenocorticotropic hormone (ACTH) stimulation test. An ACTH stimulation test involves measuring the concentration of 17-OHP in the blood before ACTH is administered and 60 min after ACTH is given.[2][3]
Last updated: 10/19/2015

How might non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency be treated?

In some cases, people affected by non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) may not require any treatment. Many are asymptomatic throughout their lives, although symptoms may develop during puberty, after puberty, or post partum. If symptoms are present, a glucocorticoid called dexamethasone is often recommended. Dexamethasone can treat irregular menstruation, acne, and excess body hair (hirsutism).[2][3]
Last updated: 10/19/2015

References
Other Names for this Disease
  • PCOS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.