Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Other Names for this Disease
- Attenuated congenital adrenal hyperplasia
- Non classic congenital adrenal hyperplasia
Your QuestionI 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?
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Questions on this page
- Can polycystic ovarian syndrome be distinguished from non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency?
- How is non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency diagnosed?
- How might non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency be treated?
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.
Last updated: 10/20/2015
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.
Last updated: 10/19/2015
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).
Last updated: 10/19/2015
- Azziz R, Sanchez LA, Knochenhauer ES, Moran C, Lazenby J, Stephens KC, et. al. Androgen excess in women: Experience with over 1000 consecutive patients. J Clin Endocrinol Metab. 2004 Feb;89(2):453-62..
- Merke DP & Nieman LK. Diagnosis and treatment of nonclassic (late-onset) congenital adrenal hyperplasia due to 21-hydroxylase deficiency. UpToDate. September 16, 2014; http://www.uptodate.com/contents/diagnosis-and-treatment-of-nonclassic-late-onset-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency. Accessed 7/6/2015.
- Saroj Nimkarn, MD and Maria I New, MD. 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. GeneReviews. August 2013; http://www.ncbi.nlm.nih.gov/books/NBK1171/.