Congenital Adrenal Hyperplasia
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Open Access
- 21 August 2003
- journal article
- review article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 349 (8) , 776-788
- https://doi.org/10.1056/nejmra021561
Abstract
Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the enzymes required for cortisol synthesis in the adrenal cortex. The most frequent is steroid 21-hydroxylase deficiency, accounting for more than 90 percent of cases. This article discusses the molecular mechanisms, diagnosis, and management of this disease and highlights new developments, including genotype–phenotype correlations, gene-specific prenatal diagnosis, and prenatal therapy.Keywords
This publication has 83 references indexed in Scilit:
- High Prevalence of Testicular Adrenal Rest Tumors, Impaired Spermatogenesis, and Leydig Cell Failure in Adolescent and Adult Males with Congenital Adrenal HyperplasiaJournal of Clinical Endocrinology & Metabolism, 2001
- Long Term Outcome in Adult Males with Classic Congenital Adrenal HyperplasiaJournal of Clinical Endocrinology & Metabolism, 2001
- Optimizing the Diagnostic Criteria for Standard (250- g) and low Dose (1- g) Adrenocorticotropin Tests in the Assessment of Adrenal FunctionJournal of Clinical Endocrinology & Metabolism, 1999
- Study of a Kindred with Classic Congenital Adrenal Hyperplasia: Diagnostic Challenge due to Phenotypic VarianceJournal of Clinical Endocrinology & Metabolism, 1998
- Testis Sparing Surgery for Steroid Unresponsive Testicular Tumors of the Adrenogenital SyndromeJournal of Urology, 1997
- Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levelsThe Journal of Pediatrics, 1997
- The use of adrenalectomy as a treatment for congenital adrenal hyperplasiaJournal of Clinical Endocrinology & Metabolism, 1996
- Newborn screening for congenital adrenal hyperplasia in New ZealandThe Journal of Pediatrics, 1995
- Characterization of pulsatile secretion and clearance of plasma cortisol in premature and term neonates using deconvolution analysisJournal of Clinical Endocrinology & Metabolism, 1993
- Fertility Rates in Female Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase DeficiencyNew England Journal of Medicine, 1987