Tests and diagnosis
Genetic testing is used to detect altered genes that may cause illness or disease. Although genetic testing can offer important health information, it has limitations.
Feb. 25, 2017
- Congenital adrenal hyperplasia. National Organization for Rare Diseases. https://rarediseases.org/rare-diseases/congenital-adrenal-hyperplasia/. Accessed Oct. 7, 2016.
- Congenital adrenal hyperplasia. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/1467/congenital-adrenal-hyperplasia. Accessed Oct. 7, 2016.
- Overview of congenital adrenal hyperplasia. Merck Manual Professional Version. http://www.merckmanuals.com/professional/pediatrics/endocrine-disorders-in-children/overview-of-congenital-adrenal-hyperplasia. Accessed Oct. 7, 2016.
- Bomberg EM, et al. The relation of peripubertal and pubertal growth to final adult height in children with classic congenital adrenal hyperplasia. Journal of Pediatrics. 2015;166:743.
- Sarafoglou K, et al. Impact of hydrocortisone on adult height in congenital adrenal hyperplasia — the Minnesota cohort. Journal of Pediatrics. 2014;164:1141.
- Sarafoglou K, et al. Cases of congenital adrenal hyperplasia missed by newborn screening in Minnesota. JAMA. 2012;307:2371.
- Pediatric endocrinology fact sheet: Congenital adrenal hyperplasia (CAH) ― A guide for families. American Academy of Pediatrics and Pediatric Endocrine Society. https://www.aap.org/en-us/Documents/soen_confenital_adrenal_hyperplasia.pdf. Accessed Oct. 7, 2016.
- Yau M, et al. Prenatal diagnosis of congenital adrenal hyperplasia. Endocrinology and Metabolism Clinics of North America. 2016;45:267.
- Maccabee-Ryaboy N, et al. Hypertension in children with congenital adrenal hyperplasia. Clinical Endocrinology. 2016;85:528.
- Lteif AN (expert opinion). Mayo Clinic, Rochester, Minn. Jan. 4, 2017.
Congenital adrenal hyperplasia