Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Other Names for this Disease
- Non classic congenital adrenal hyperplasia
- Attenuated congenital adrenal hyperplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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.
- The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) provides information related to the health of children, adults, and families. Click on the link to view information on this topic.
- Genetics Home Reference (GHR) contains information on Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. This website is maintained by the National Library of Medicine.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Click on the link to view a sample search on this topic.