This Article Full Text Full Text (PDF) An erratum has been published Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Reprints, Permissions and Rights Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by White, P. C. Articles by Speiser, P. W. Search for Related Content PubMed PubMed Citation Articles by White, P. C. Articles by Speiser, P. W.

Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency¹

Division of Pediatric Endocrinology (P.C.W.), University of Texas Southwestern Medical Center, Dallas, Texas 75390-9063; and Division of Pediatric Endocrinology (P.W.S.), North Shore University Hospital and New York University School of Medicine, Manhasset, New York 11030

More than 90% of cases of congenital adrenal hyperplasia (CAH, the inherited inability to synthesize cortisol) are caused by 21-hydroxylase deficiency. Females with severe, classic 21-hydroxylase deficiency are exposed to excess androgens prenatally and are born with virilized external genitalia. Most patients cannot synthesize sufficient aldosterone to maintain sodium balance and may develop potentially fatal "salt wasting" crises if not treated. The disease is caused by mutations in the CYP21 gene encoding the steroid 21-hydroxylase enzyme. More than 90% of these mutations result from intergenic recombinations between CYP21 and the closely linked CYP21P pseudogene. Approximately 20% are gene deletions due to unequal crossing over during meiosis, whereas the remainder are gene conversions—transfers to CYP21 of deleterious mutations normally present in CYP21P. The degree to which each mutation compromises enzymatic activity is strongly correlated with the clinical severity of the disease in patients carrying it. Prenatal diagnosis by direct mutation detection permits prenatal treatment of affected females to minimize genital virilization. Neonatal screening by hormonal methods identifies affected children before salt wasting crises develop, reducing mortality from this condition. Glucocorticoid and mineralocorticoid replacement are the mainstays of treatment, but more rational dosing and additional therapies are being developed.

This article has been cited by other articles:

				M. C. Dennedy, D. Smith, D. O'Shea, and T J. McKenna Investigation of patients with atypical or severe hyperandrogenaemia including androgen-secreting ovarian teratoma Eur. J. Endocrinol., February 1, 2010; 162(2): 213 - 220. [Abstract] [Full Text] [PDF]

				S. Parajes, L. Loidi, N. Reisch, V. Dhir, I. T. Rose, R. Hampel, M. Quinkler, G. S. Conway, L. Castro-Feijoo, D. Araujo-Vilar, et al. Functional Consequences of Seven Novel Mutations in the CYP11B1 Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11{beta}-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., February 1, 2010; 95(2): 779 - 788. [Abstract] [Full Text] [PDF]

				J. M. Kroese, C. F Mooij, M. van der Graaf, A. R M M Hermus, and C. J Tack Pioglitazone improves insulin resistance and decreases blood pressure in adult patients with congenital adrenal hyperplasia Eur. J. Endocrinol., December 1, 2009; 161(6): 887 - 894. [Abstract] [Full Text] [PDF]

				F. C. Soardi, J. Y. Penachioni, G. Z. Justo, T. A. S. S. Bachega, M. Inacio, B. B. Mendonca, M. de Castro, and M. P. de Mello Novel Mutations in CYP11B1 Gene Leading to 11{beta}-Hydroxylase Deficiency in Brazilian Patients J. Clin. Endocrinol. Metab., September 1, 2009; 94(9): 3481 - 3485. [Abstract] [Full Text] [PDF]

				S. M. Bryan, J. W. Honour, and P. C. Hindmarsh Management of Altered Hydrocortisone Pharmacokinetics in a Boy with Congenital Adrenal Hyperplasia Using a Continuous Subcutaneous Hydrocortisone Infusion J. Clin. Endocrinol. Metab., September 1, 2009; 94(9): 3477 - 3480. [Abstract] [Full Text] [PDF]

				P. Cavarzere, D. Samara-Boustani, I. Flechtner, M. Dechaux, C. Elie, V. Tardy, Y. Morel, and M. Polak Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia Eur. J. Endocrinol., August 1, 2009; 161(2): 285 - 292. [Abstract] [Full Text] [PDF]

				M. F. Faienza, G. Brunetti, S. Colucci, L. Piacente, M. Ciccarelli, L. Giordani, G. C. Del Vecchio, M. D'Amore, L. Albanese, L. Cavallo, et al. Osteoclastogenesis in Children with 21-Hydroxylase Deficiency on Long-Term Glucocorticoid Therapy: The Role of Receptor Activator of Nuclear Factor-{kappa}B Ligand/Osteoprotegerin Imbalance J. Clin. Endocrinol. Metab., July 1, 2009; 94(7): 2269 - 2276. [Abstract] [Full Text] [PDF]

				Z. Antal and P. Zhou Congenital Adrenal Hyperplasia: Diagnosis, Evaluation, and Management Pediatr. Rev., July 1, 2009; 30(7): e49 - e57. [Full Text] [PDF]

				M. Bidet, C. Bellanne-Chantelot, M.-B. Galand-Portier, V. Tardy, L. Billaud, K. Laborde, C. Coussieu, Y. Morel, C. Vaury, J.-L. Golmard, et al. Clinical and Molecular Characterization of a Cohort of 161 Unrelated Women with Nonclassical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and 330 Family Members J. Clin. Endocrinol. Metab., May 1, 2009; 94(5): 1570 - 1578. [Abstract] [Full Text] [PDF]

				T Sathyapalan and S. L Atkin Investigating hirsutism BMJ, April 28, 2009; 338(apr28_1): b912 - b912. [Full Text]

				T. M K Volkl, D. Simm, A. Korner, W. Rascher, W. Kiess, J. Kratzsch, and H. G Dorr Does an altered leptin axis play a role in obesity among children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency? Eur. J. Endocrinol., February 1, 2009; 160(2): 239 - 247. [Abstract] [Full Text] [PDF]

				L. G. Gomes, N. Huang, V. Agrawal, B. B. Mendonca, T. A. S. S. Bachega, and W. L. Miller Extraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., January 1, 2009; 94(1): 89 - 95. [Abstract] [Full Text] [PDF]

				F. G. Riepe, O. Hiort, J. Grotzinger, W. G. Sippell, N. Krone, and P.-M. Holterhus Functional and Structural Consequences of a Novel Point Mutation in the CYP21A2 Gene Causing Congenital Adrenal Hyperplasia: Potential Relevance of Helix C for P450 Oxidoreductase-21-Hydroxylase Interaction J. Clin. Endocrinol. Metab., July 1, 2008; 93(7): 2891 - 2895. [Abstract] [Full Text] [PDF]

				Z. Chakhtoura, A. Bachelot, D. Samara-Boustani, J.-C. Ruiz, B. Donadille, J. Dulon, S. Christin-Maitre, C. Bouvattier, M.-C. Raux-Demay, P. Bouchard, et al. Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency. Eur. J. Endocrinol., June 1, 2008; 158(6): 879 - 887. [Abstract] [Full Text] [PDF]

				F. C. Soardi, M. Barbaro, I. F. Lau, S. H. V. Lemos-Marini, M. T. M. Baptista, G. Guerra-Junior, A. Wedell, S. Lajic, and M. P. de Mello Inhibition of CYP21A2 Enzyme Activity Caused by Novel Missense Mutations Identified in Brazilian and Scandinavian Patients J. Clin. Endocrinol. Metab., June 1, 2008; 93(6): 2416 - 2420. [Abstract] [Full Text] [PDF]

				T. Tosha, N. Kagawa, M. Arase, M. R. Waterman, and T. Kitagawa Interaction between Substrate and Oxygen Ligand Responsible for Effective O-O Bond Cleavage in Bovine Cytochrome P450 Steroid 21-Hydroxylase Proved by Raman Spectroscopy J. Biol. Chem., February 15, 2008; 283(7): 3708 - 3717. [Abstract] [Full Text] [PDF]

				J. E. Lee, Y. Moon, M. H. Lee, Y. H. Jun, K. I. Oh, and J. W. Choi Corrected 17-Alpha-Hydroxyprogesterone Values Adjusted by a Scoring System for Screening Congenital Adrenal Hyperplasia in Premature Infants Ann. Clin. Lab. Sci., January 1, 2008; 38(3): 235 - 240. [Abstract] [Full Text] [PDF]

				H. Falhammar, H. Filipsson, G. Holmdahl, P.-O. Janson, A. Nordenskjold, K. Hagenfeldt, and M. Thoren Fractures and Bone Mineral Density in Adult Women with 21-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., December 1, 2007; 92(12): 4643 - 4649. [Abstract] [Full Text] [PDF]

				R. S. Araujo, B. B. Mendonca, A. S. Barbosa, C. J. Lin, J. A. M. Marcondes, A. E. C. Billerbeck, and T. A. S. S. Bachega Microconversion between CYP21A2 and CYP21A1P Promoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., October 1, 2007; 92(10): 4028 - 4034. [Abstract] [Full Text] [PDF]

				S. Parajes, C. Quinterio, F. Dominguez, and L. Loidi A Simple and Robust Quantitative PCR Assay to Determine CYP21A2 Gene Dose in the Diagnosis of 21-Hydroxylase Deficiency Clin. Chem., September 1, 2007; 53(9): 1577 - 1584. [Abstract] [Full Text] [PDF]

				Z. M. Nabhan and E. A. Eugster Upper-Tract Genitourinary Malformations in Girls With Congenital Adrenal Hyperplasia Pediatrics, August 1, 2007; 120(2): e304 - e307. [Abstract] [Full Text] [PDF]

				D. I. Shulman, M. R. Palmert, S. F. Kemp, and for the Lawson Wilkins Drug and Therapeutics Commi Adrenal Insufficiency: Still a Cause of Morbidity and Death in Childhood Pediatrics, February 1, 2007; 119(2): e484 - e494. [Abstract] [Full Text] [PDF]

				S. Nimkarn, K. Lin-Su, N. Berglind, R. C. Wilson, and M. I. New Aldosterone-to-Renin Ratio as a Marker for Disease Severity in 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia J. Clin. Endocrinol. Metab., January 1, 2007; 92(1): 137 - 142. [Abstract] [Full Text] [PDF]

				H. Falhammar, H. Filipsson, G. Holmdahl, P.-O. Janson, A. Nordenskjold, K. Hagenfeldt, and M. Thoren Metabolic Profile and Body Composition in Adult Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., January 1, 2007; 92(1): 110 - 116. [Abstract] [Full Text] [PDF]

				Y. Grischuk, P. Rubtsov, F. G. Riepe, J. Grotzinger, S. Beljelarskaia, V. Prassolov, N. Kalintchenko, T. Semitcheva, V. Peterkova, A. Tiulpakov, et al. Four Novel Missense Mutations in the CYP21A2 Gene Detected in Russian Patients Suffering from the Classical Form of Congenital Adrenal Hyperplasia: Identification, Functional Characterization, and Structural Analysis J. Clin. Endocrinol. Metab., December 1, 2006; 91(12): 4976 - 4980. [Abstract] [Full Text] [PDF]

				T. M. K. Volkl, D. Simm, J. Dotsch, W. Rascher, and H. G. Dorr Altered 24-Hour Blood Pressure Profiles in Children and Adolescents with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., December 1, 2006; 91(12): 4888 - 4895. [Abstract] [Full Text] [PDF]

				T. Robins, J. Carlsson, M. Sunnerhagen, A. Wedell, and B. Persson Molecular Model of Human CYP21 Based on Mammalian CYP2C5: Structural Features Correlate with Clinical Severity of Mutations Causing Congenital Adrenal Hyperplasia Mol. Endocrinol., November 1, 2006; 20(11): 2946 - 2964. [Abstract] [Full Text] [PDF]

				O. Porzio, V. Cunsolo, M. Malaponti, E. De Nisco, A. Acquafredda, L. Cavallo, M. Andreani, E. Giardina, M. Testi, M. Cappa, et al. Divergent Phenotype of Two Siblings Human Leukocyte Antigen Identical, Affected by Nonclassical and Classical Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., November 1, 2006; 91(11): 4510 - 4513. [Abstract] [Full Text] [PDF]

				M. Sciannamblo, G. Russo, D. Cuccato, G. Chiumello, and S. Mora Reduced Bone Mineral Density and Increased Bone Metabolism Rate in Young Adult Patients with 21-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., November 1, 2006; 91(11): 4453 - 4458. [Abstract] [Full Text] [PDF]

				C. Moran, R. Azziz, N. Weintrob, S. F. Witchel, V. Rohmer, D. Dewailly, J. A. M. Marcondes, M. Pugeat, P. W. Speiser, D. Pignatelli, et al. Reproductive Outcome of Women with 21-Hydroxylase-Deficient Nonclassic Adrenal Hyperplasia J. Clin. Endocrinol. Metab., September 1, 2006; 91(9): 3451 - 3456. [Abstract] [Full Text] [PDF]

				C. I. Kaye and and the Committee on Genetics Newborn Screening Fact Sheets Pediatrics, September 1, 2006; 118(3): e934 - e963. [Abstract] [Full Text] [PDF]

				M. Janner, A. V Pandey, P. E Mullis, and C. E Fluck Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein. Eur. J. Endocrinol., July 1, 2006; 155(1): 143 - 151. [Abstract] [Full Text] [PDF]

				N. Krone, Y. Grischuk, M. Muller, R. E. Volk, J. Grotzinger, P.-M. Holterhus, W. G. Sippell, and F. G. Riepe Analyzing the Functional and Structural Consequences of Two Point Mutations (P94L and A368D) in the CYP11B1 Gene Causing Congenital Adrenal Hyperplasia Resulting from 11-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., July 1, 2006; 91(7): 2682 - 2688. [Abstract] [Full Text] [PDF]

				A Luczay, D Torok, A Ferenczi, J Majnik, J Solyom, and G. Fekete Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency. Eur. J. Endocrinol., June 1, 2006; 154(6): 859 - 864. [Abstract] [Full Text] [PDF]

				H. L. Claahsen-van der Grinten, K. Noordam, G. F. Borm, and B. J. Otten Absence of Increased Height Velocity in the First Year of Life in Untreated Children with Simple Virilizing Congenital Adrenal Hyperplasia J. Clin. Endocrinol. Metab., April 1, 2006; 91(4): 1205 - 1209. [Abstract] [Full Text] [PDF]

				A. Grigorescu Sido, M. M. Weber, P. Grigorescu Sido, S. Clausmeyer, U. Heinrich, and E. Schulze 21-Hydroxylase and 11{beta}-Hydroxylase Mutations in Romanian Patients with Classic Congenital Adrenal Hyperplasia J. Clin. Endocrinol. Metab., October 1, 2005; 90(10): 5769 - 5773. [Abstract] [Full Text] [PDF]

				F. Votava, D. Torok, J. Kovacs, D. Moslinger, S. M Baumgartner-Parzer, J. Solyom, Z. Pribilincova, T. Battelino, J. Lebl, H. Frisch, et al. Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia Eur. J. Endocrinol., June 1, 2005; 152(6): 869 - 874. [Abstract] [Full Text] [PDF]

				N. Krone, F. G. Riepe, D. Gotze, E. Korsch, M. Rister, J. Commentz, C.-J. Partsch, J. Grotzinger, M. Peter, and W. G. Sippell Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in the CYP11B1 Gene J. Clin. Endocrinol. Metab., June 1, 2005; 90(6): 3724 - 3730. [Abstract] [Full Text] [PDF]

				K. Lin-Su, M. G. Vogiatzi, I. Marshall, M. D. Harbison, M. C. Macapagal, B. Betensky, S. Tansil, and M. I. New Treatment with Growth Hormone and Luteinizing Hormone Releasing Hormone Analog Improves Final Adult Height in Children with Congenital Adrenal Hyperplasia J. Clin. Endocrinol. Metab., June 1, 2005; 90(6): 3318 - 3325. [Abstract] [Full Text] [PDF]

				F. G. Riepe, S. Tatzel, W. G. Sippell, J. Pleiss, and N. Krone Congenital Adrenal Hyperplasia: The Molecular Basis of 21-Hydroxylase Deficiency in H-2aw18 Mice Endocrinology, June 1, 2005; 146(6): 2563 - 2574. [Abstract] [Full Text] [PDF]

				W. L. Miller Minireview: Regulation of Steroidogenesis by Electron Transfer Endocrinology, June 1, 2005; 146(6): 2544 - 2550. [Abstract] [Full Text] [PDF]

				D. Keen-Kim, J. B. Redman, R. U. Alanes, M. M. Eachus, R. C. Wilson, M. I. New, J. M. Nakamoto, and R. G. Fenwick Validation and Clinical Application of a Locus-Specific Polymerase Chain Reaction- and Minisequencing-Based Assay for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) J. Mol. Diagn., May 1, 2005; 7(2): 236 - 246. [Abstract] [Full Text] [PDF]

				T. Robins, M. Barbaro, S. Lajic, and A. Wedell Not All Amino Acid Substitutions of the Common Cluster E6 Mutation in CYP21 Cause Congenital Adrenal Hyperplasia J. Clin. Endocrinol. Metab., April 1, 2005; 90(4): 2148 - 2153. [Abstract] [Full Text] [PDF]

				P. C. White and W. E. Rainey Polymorphisms in CYP11B Genes and 11-Hydroxylase Activity J. Clin. Endocrinol. Metab., February 1, 2005; 90(2): 1252 - 1255. [Full Text] [PDF]

				S. M. Baumgartner-Parzer, P. Nowotny, G. Heinze, W. Waldhausl, and H. Vierhapper Carrier Frequency of Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) in a Middle European Population J. Clin. Endocrinol. Metab., February 1, 2005; 90(2): 775 - 778. [Abstract] [Full Text] [PDF]

				L Nikfarjam, S Kominami, T Yamazaki, S Chen, R Hewer, C Dal Pra, T Nakamatsu, C Betterle, R Zanchetta, B Rees Smith, et al. Mechanism of inhibition of cytochrome P450 C21 enzyme activity by autoantibodies from patients with Addison's disease Eur. J. Endocrinol., January 1, 2005; 152(1): 95 - 101. [Abstract] [Full Text] [PDF]

				N. Krone, F. G. Riepe, J. Grotzinger, C.-J. Partsch, and W. G. Sippell Functional Characterization of Two Novel Point Mutations in the CYP21 Gene Causing Simple Virilizing Forms of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., January 1, 2005; 90(1): 445 - 454. [Abstract] [Full Text] [PDF]

				K. Homma, T. Hasegawa, E. Takeshita, K. Watanabe, M. Anzo, T. Toyoura, K. Jinno, T. Ohashi, T. Hamajima, Y. Takahashi, et al. Elevated Urine Pregnanetriolone Definitively Establishes the Diagnosis of Classical 21-Hydroxylase Deficiency in Term and Preterm Neonates J. Clin. Endocrinol. Metab., December 1, 2004; 89(12): 6087 - 6091. [Abstract] [Full Text] [PDF]

				M. G. Forest Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency Hum. Reprod. Update, November 1, 2004; 10(6): 469 - 485. [Abstract] [Full Text] [PDF]

				Y. Yang, K. Lhotta, E. K. Chung, P. Eder, F. Neumair, and C. Y. Yu Complete Complement Components C4A and C4B Deficiencies in Human Kidney Diseases and Systemic Lupus Erythematosus J. Immunol., August 15, 2004; 173(4): 2803 - 2814. [Abstract] [Full Text] [PDF]

				H.-H. Lee, Y.-J. Lee, P. Chan, and C.-Y. Lin Use of PCR-Based Amplification Analysis as a Substitute for the Southern Blot Method for CYP21 Deletion Detection in Congenital Adrenal Hyperplasia Clin. Chem., June 1, 2004; 50(6): 1074 - 1076. [Full Text] [PDF]

				E. Charmandari, D. P. Merke, P. J. Negro, M. F. Keil, P. E. Martinez, A. Haim, P. W. Gold, and G. P. Chrousos Endocrinologic and Psychologic Evaluation of 21-Hydroxylase Deficiency Carriers and Matched Normal Subjects: Evidence for Physical and/or Psychologic Vulnerability to Stress J. Clin. Endocrinol. Metab., May 1, 2004; 89(5): 2228 - 2236. [Abstract] [Full Text] [PDF]

				M. Barbaro, S. Lajic, L. Baldazzi, A. Balsamo, P. Pirazzoli, A. Cicognani, A. Wedell, and E. Cacciari Functional Analysis of Two Recurrent Amino Acid Substitutions in the CYP21 Gene from Italian Patients with Congenital Adrenal Hyperplasia J. Clin. Endocrinol. Metab., May 1, 2004; 89(5): 2402 - 2407. [Abstract] [Full Text] [PDF]

				M. Costa-Santos, C. E. Kater, and R. J. Auchus Two Prevalent CYP17 Mutations and Genotype-Phenotype Correlations in 24 Brazilian Patients with 17-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., January 1, 2004; 89(1): 49 - 60. [Abstract] [Full Text] [PDF]

				C. M. Hall, J. A. Jones, H. F. L. Meyer-Bahlburg, C. Dolezal, M. Coleman, P. Foster, D. A. Price, and P. E. Clayton Behavioral and Physical Masculinization Are Related to Genotype in Girls with Congenital Adrenal Hyperplasia J. Clin. Endocrinol. Metab., January 1, 2004; 89(1): 419 - 424. [Abstract] [Full Text] [PDF]

				T. Tukel, O. Uyguner, J. Q. Wei, M. Yuksel-Apak, N. Saka, D. X. Song, H. Kayserili, F. Bas, H. Gunoz, R. C. Wilson, et al. A Novel Semiquantitative Polymerase Chain Reaction/Enzyme Digestion-Based Method for Detection of Large Scale Deletions/Conversions of the CYP21 Gene and Mutation Screening in Turkish Families with 21-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., December 1, 2003; 88(12): 5893 - 5897. [Abstract] [Full Text] [PDF]

				P. W. Speiser and P. C. White Congenital Adrenal Hyperplasia N. Engl. J. Med., August 21, 2003; 349(8): 776 - 788. [Full Text] [PDF]

				N. M. M. L. Stikkelbroeck, L. H. Hoefsloot, I. J. de Wijs, B. J. Otten, A. R. M. M. Hermus, and E. A. Sistermans CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations J. Clin. Endocrinol. Metab., August 1, 2003; 88(8): 3852 - 3859. [Abstract] [Full Text] [PDF]

				G. Pinto, V. Tardy, C. Trivin, C. Thalassinos, S. Lortat-Jacob, C. Nihoul-Fekete, Y. Morel, and R. Brauner Follow-Up of 68 Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Relevance of Genotype for Management J. Clin. Endocrinol. Metab., June 1, 2003; 88(6): 2624 - 2633. [Abstract] [Full Text] [PDF]

				S. M. Baumgartner-Parzer, P. Nowotny, W. Waldhausl, and H. Vierhapper A Rare Duplicated 21-Hydroxylase Haplotype and a de Novo Mutation: A Family Analysis J. Clin. Endocrinol. Metab., June 1, 2003; 88(6): 2794 - 2796. [Abstract] [Full Text] [PDF]

				P F J Koppens, H J M Smeets, I J de Wijs, and H J Degenhart Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene J. Med. Genet., May 1, 2003; 40(5): e53 - 53. [Full Text] [PDF]

				B. B. Sherwin Estrogen and Cognitive Functioning in Women Endocr. Rev., April 1, 2003; 24(2): 133 - 151. [Abstract] [Full Text] [PDF]

				A. Nordenstrom, A. Servin, G. Bohlin, A. Larsson, and A. Wedell Sex-Typed Toy Play Behavior Correlates with the Degree of Prenatal Androgen Exposure Assessed by CYP21 Genotype in Girls with Congenital Adrenal Hyperplasia J. Clin. Endocrinol. Metab., November 1, 2002; 87(11): 5119 - 5124. [Abstract] [Full Text] [PDF]

				P. F.J. Koppens, T. Hoogenboezem, and H. J. Degenhart Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions Hum. Mol. Genet., October 2, 2002; 11(21): 2581 - 2590. [Abstract] [Full Text] [PDF]

				Joint LWPES/ESPE CAH Working Group Consensus Statement on 21-Hydroxylase Deficiency from The Lawson Wilkins Pediatric Endocrine Society and The European Society for Paediatric Endocrinology J. Clin. Endocrinol. Metab., September 1, 2002; 87(9): 4048 - 4053. [Full Text] [PDF]

				H. Li, M. Brochu, S. P. Wang, L. Rochdi, M. Cote, G. Mitchell, and N. Gallo-Payet Hormone-Sensitive Lipase Deficiency in Mice Causes Lipid Storage in the Adrenal Cortex and Impaired Corticosterone Response to Corticotropin Stimulation Endocrinology, September 1, 2002; 143(9): 3333 - 3340. [Abstract] [Full Text] [PDF]

				M. P. Caulfield, T. Lynn, M. E. Gottschalk, K. L. Jones, N. F. Taylor, E. M. Malunowicz, C. H. L. Shackleton, R. E. Reitz, and D. A. Fisher The Diagnosis of Congenital Adrenal Hyperplasia in the Newborn by Gas Chromatography/Mass Spectrometry Analysis of Random Urine Specimens J. Clin. Endocrinol. Metab., August 1, 2002; 87(8): 3682 - 3690. [Abstract] [Full Text] [PDF]

				N. Katsumata, M. Ohtake, T. Hojo, E. Ogawa, T. Hara, N. Sato, and T. Tanaka Compound Heterozygous Mutations in the Cholesterol Side-Chain Cleavage Enzyme Gene (CYP11A) Cause Congenital Adrenal Insufficiency in Humans J. Clin. Endocrinol. Metab., August 1, 2002; 87(8): 3808 - 3813. [Abstract] [Full Text] [PDF]

				E. Charmandari, G. Eisenhofer, S. L. Mehlinger, A. Carlson, R. Wesley, M. F. Keil, G. P. Chrousos, M. I. New, and D. P. Merke Adrenomedullary Function May Predict Phenotype and Genotype in Classic 21-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., July 1, 2002; 87(7): 3031 - 3037. [Abstract] [Full Text] [PDF]

				E. Charmandari, K. A. Calis, M. F. Keil, M. R. Mohassel, A. Remaley, and D. P. Merke Flutamide Decreases Cortisol Clearance in Patients with Congenital Adrenal Hyperplasia J. Clin. Endocrinol. Metab., July 1, 2002; 87(7): 3197 - 3200. [Abstract] [Full Text] [PDF]

				S. Lajic, S. Clauin, T. Robins, P. Vexiau, H. Blanche, C. Bellanne-Chantelot, and A. Wedell Novel Mutations in CYP21 Detected in Individuals with Hyperandrogenism J. Clin. Endocrinol. Metab., June 1, 2002; 87(6): 2824 - 2829. [Abstract] [Full Text] [PDF]

				N. Krone, A. Braun, S. Weinert, M. Peter, A. A. Roscher, C.-J. Partsch, and W. G. Sippell Multiplex Minisequencing of the 21-Hydroxylase Gene as a Rapid Strategy to Confirm Congenital Adrenal Hyperplasia Clin. Chem., June 1, 2002; 48(6): 818 - 825. [Abstract] [Full Text] [PDF]

				E. Charmandari, M. Weise, S. R. Bornstein, G. Eisenhofer, M. F. Keil, G. P. Chrousos, and D. P. Merke Children with Classic Congenital Adrenal Hyperplasia Have Elevated Serum Leptin Concentrations and Insulin Resistance: Potential Clinical Implications J. Clin. Endocrinol. Metab., May 1, 2002; 87(5): 2114 - 2120. [Abstract] [Full Text] [PDF]

				E. Charmandari, S. M. Pincus, D. R. Matthews, A. Johnston, C. G. D. Brook, and P. C. Hindmarsh Oral Hydrocortisone Administration in Children with Classic 21-Hydroxylase Deficiency Leads to More Synchronous Joint GH and Cortisol Secretion J. Clin. Endocrinol. Metab., May 1, 2002; 87(5): 2238 - 2244. [Abstract] [Full Text] [PDF]

				R. W.K. Chiu, T. K. Lau, P. T. Cheung, Z. Q. Gong, T. N. Leung, and Y.M. D. Lo Noninvasive Prenatal Exclusion of Congenital Adrenal Hyperplasia by Maternal Plasma Analysis: A Feasibility Study Clin. Chem., May 1, 2002; 48(5): 778 - 780. [Full Text] [PDF]

				E. Chamoux, A. Narcy, J.-G. Lehoux, and N. Gallo-Payet Fibronectin, Laminin, and Collagen IV as Modulators of Cell Behavior during Adrenal Gland Development in the Human Fetus J. Clin. Endocrinol. Metab., April 1, 2002; 87(4): 1819 - 1828. [Abstract] [Full Text] [PDF]

				K. Moritz, A. Butkus, V. Hantzis, A. Peers, E. M. Wintour, and M. Dodic Prolonged Low-Dose Dexamethasone, in Early Gestation, Has No Long-Term Deleterious Effect on Normal Ovine Fetuses Endocrinology, April 1, 2002; 143(4): 1159 - 1165. [Abstract] [Full Text] [PDF]

				E Charmandari, C G D Brook, and P C Hindmarsh Why is management of patients with classical congenital adrenal hyperplasia more difficult at puberty? Arch. Dis. Child., April 1, 2002; 86(4): 266 - 269. [Abstract] [Full Text] [PDF]

				R. C. Olney, E. B. Mougey, J. Wang, D. I. Shulman, and J. E. Sylvester Using Real-Time, Quantitative PCR for Rapid Genotyping of the Steroid 21-Hydroxylase Gene in a North Florida Population J. Clin. Endocrinol. Metab., February 1, 2002; 87(2): 735 - 741. [Abstract] [Full Text] [PDF]

				E. D. Chambrier, C. Heinrichs, and F. E. Avni Sonographic Appearance of Congenital Adrenal Hyperplasia In Utero J. Ultrasound Med., January 1, 2002; 21(1): 97 - 100. [Full Text] [PDF]

				N. M. M. L. Stikkelbroeck, B. J. Otten, A. Pasic, G. J. Jager, C. G. J. F. Sweep, K. Noordam, and A. R. M. M. Hermus High Prevalence of Testicular Adrenal Rest Tumors, Impaired Spermatogenesis, and Leydig Cell Failure in Adolescent and Adult Males with Congenital Adrenal Hyperplasia J. Clin. Endocrinol. Metab., December 1, 2001; 86(12): 5721 - 5728. [Abstract] [Full Text] [PDF]

				I. F. Lau, F. C. Soardi, S. H. V. Lemos-Marini, G. Guerra Jr., M. T. M. Baptista, and M. P. De Mello H28+C Insertion in the CYP21 Gene: A Novel Frameshift Mutation in a Brazilian Patient with the Classical Form of 21-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., December 1, 2001; 86(12): 5877 - 5880. [Abstract] [Full Text] [PDF]

				K. M. Kayes-Wandover, G. M. Tannin, D. Shulman, D. Peled, K. L. Jones, L. Karaviti, and P. C. White Congenital Hyperreninemic Hypoaldosteronism Unlinked to the Aldosterone Synthase (CYP11B2) Gene J. Clin. Endocrinol. Metab., November 1, 2001; 86(11): 5379 - 5382. [Abstract] [Full Text] [PDF]

				E. Charmandari, D. R. Matthews, A. Johnston, C. G. D. Brook, and P. C. Hindmarsh Serum Cortisol and 17-Hydroxyprogesterone Interrelation in Classic 21-Hydroxylase Deficiency: Is Current Replacement Therapy Satisfactory? J. Clin. Endocrinol. Metab., October 1, 2001; 86(10): 4679 - 4685. [Abstract] [Full Text] [PDF]

				S. M. Baumgartner-Parzer, E. Schulze, W. Waldhausl, S. Pauschenwein, S. Rondot, P. Nowotny, K. Meyer, H. Frisch, F. Waldhauser, and H. Vierhapper Mutational Spectrum of the Steroid 21-Hydroxylase Gene in Austria: Identification of a Novel Missense Mutation J. Clin. Endocrinol. Metab., October 1, 2001; 86(10): 4771 - 4775. [Abstract] [Full Text] [PDF]

				A. Nordenstrom, A. Wedell, L. Hagenfeldt, C. Marcus, and A. Larsson Neonatal Screening for Congenital Adrenal Hyperplasia: 17-Hydroxyprogesterone Levels and CYP21 Genotypes in Preterm Infants Pediatrics, October 1, 2001; 108(4): e68 - 68. [Abstract] [Full Text] [PDF]

				T. M. Williams Human Leukocyte Antigen Gene Polymorphism and the Histocompatibility Laboratory J. Mol. Diagn., August 1, 2001; 3(3): 98 - 104. [Abstract] [Full Text] [PDF]

				S. Ten, M. New, and N. Maclaren Addison's Disease 2001 J. Clin. Endocrinol. Metab., July 1, 2001; 86(7): 2909 - 2922. [Abstract] [Full Text] [PDF]

				M. S. Cabrera, M. G. Vogiatzi, and M. I. New Long Term Outcome in Adult Males with Classic Congenital Adrenal Hyperplasia J. Clin. Endocrinol. Metab., July 1, 2001; 86(7): 3070 - 3078. [Abstract] [Full Text] [PDF]

				E. Charmandari, P. C. Hindmarsh, A. Johnston, and C. G. D. Brook Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Alterations in Cortisol Pharmacokinetics at Puberty J. Clin. Endocrinol. Metab., June 1, 2001; 86(6): 2701 - 2708. [Abstract] [Full Text] [PDF]

				C. E. Keegan and A. A. Killeen An Overview of Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency J. Mol. Diagn., May 1, 2001; 3(2): 49 - 54. [Full Text]

				K. M. Kayes-Wandover, R. E. L. Schindler, H. C. Taylor, and P. C. White Type 1 Aldosterone Synthase Deficiency Presenting in a Middle-Aged Man J. Clin. Endocrinol. Metab., March 1, 2001; 86(3): 1008 - 1012. [Abstract] [Full Text]