Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Other Names for this Disease
- Non classic congenital adrenal hyperplasia
- Attenuated congenital adrenal hyperplasia
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congenital adrenal hyperplasia. Some people affected by the condition have no associated signs and symptoms while others experience symptoms of androgen (male hormone) excess. Women with NCAH are generally born with normal female genitalia. Later in life, signs and symptoms of the condition can vary but may include hirsutism, frontal baldness, delayed menarche (first period), menstrual irregularities, and infertility. Little has been published about males with NCAH. They may have early beard growth and relatively small testes. Typically, they have normal sperm counts. NCAH is caused by changes (mutations) in the CYP21A2 gene and is inherited in an autosomal recessive manner. Treatment is only necessary in people who are symptomatic and may include a glucocorticoid called dexamethasone.Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is a milder and later onset form of a genetic condition known as
Last updated: 10/19/2015
- 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/.
- Lynnette K Nieman, MD. Genetics and clinical presentation of nonclassic (late-onset) congenital adrenal hyperplasia due to 21-hydroxylase deficiency. UpToDate. September 2015; Accessed 10/19/2015.
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- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.
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