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Diagnosis and management of classical congenital adrenal hyperplasia.
Steroids. 2013 Aug; 78(8):741-6.S

Abstract

Congenital adrenal hyperplasia (CAH) is among the most common genetic disorders. Deficiency of adrenal steroid 21-hydroxylase deficiency due to mutations in the CYP21A2 gene accounts for about 95% cases of CAH. This disorder manifests with androgen excess with or without salt wasting. It also is a potentially life threatening disorder; neonatal screening with 17-hydroxyprogesterone measurement can diagnose the condition in asymptomatic children. Carefully monitored therapy with glucocorticoid and mineralocorticoid supplementation will ensure optimal growth and development for children with CAH. Genital surgery may be required for girls with CAH. Continued care is required for individuals with CAH as adults to prevent long-term adverse consequences of the disease, including infertility, metabolic syndrome and osteoporosis.

Authors+Show Affiliations

Department of Endocrinology, All India Institute of Medical Sciences, New Delhi, India.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

23624029

Citation

Marumudi, Eunice, et al. "Diagnosis and Management of Classical Congenital Adrenal Hyperplasia." Steroids, vol. 78, no. 8, 2013, pp. 741-6.
Marumudi E, Khadgawat R, Surana V, et al. Diagnosis and management of classical congenital adrenal hyperplasia. Steroids. 2013;78(8):741-6.
Marumudi, E., Khadgawat, R., Surana, V., Shabir, I., Joseph, A., & Ammini, A. C. (2013). Diagnosis and management of classical congenital adrenal hyperplasia. Steroids, 78(8), 741-6. https://doi.org/10.1016/j.steroids.2013.04.007
Marumudi E, et al. Diagnosis and Management of Classical Congenital Adrenal Hyperplasia. Steroids. 2013;78(8):741-6. PubMed PMID: 23624029.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Diagnosis and management of classical congenital adrenal hyperplasia. AU - Marumudi,Eunice, AU - Khadgawat,Rajesh, AU - Surana,Vineet, AU - Shabir,Iram, AU - Joseph,Angela, AU - Ammini,Ariachery C, Y1 - 2013/04/25/ PY - 2013/03/31/received PY - 2013/04/09/revised PY - 2013/04/09/accepted PY - 2013/4/30/entrez PY - 2013/4/30/pubmed PY - 2014/1/25/medline SP - 741 EP - 6 JF - Steroids JO - Steroids VL - 78 IS - 8 N2 - Congenital adrenal hyperplasia (CAH) is among the most common genetic disorders. Deficiency of adrenal steroid 21-hydroxylase deficiency due to mutations in the CYP21A2 gene accounts for about 95% cases of CAH. This disorder manifests with androgen excess with or without salt wasting. It also is a potentially life threatening disorder; neonatal screening with 17-hydroxyprogesterone measurement can diagnose the condition in asymptomatic children. Carefully monitored therapy with glucocorticoid and mineralocorticoid supplementation will ensure optimal growth and development for children with CAH. Genital surgery may be required for girls with CAH. Continued care is required for individuals with CAH as adults to prevent long-term adverse consequences of the disease, including infertility, metabolic syndrome and osteoporosis. SN - 1878-5867 UR - https://www.unboundmedicine.com/medline/citation/23624029/Diagnosis_and_management_of_classical_congenital_adrenal_hyperplasia_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0039-128X(13)00089-5 DB - PRIME DP - Unbound Medicine ER -