Congenital adrenal hyperplasia due to 21-hydroxylase deficiency*

White, Perrin C.; Speiser, Phyllis W.

doi:10.1210/edrv.21.3.0398

Cited by 1,432Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency*

White, Perrin C., Speiser, Phyllis W.·2000·Endocrine Reviews

DOI 10.1210/edrv.21.3.0398

Open this paper in CoChat — free account

Abstract

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.

Integrity signals

Registry

Crossref · 10.1210/edrv.21.3.0398

Cites

48 of 48 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Population-based studies reveal rare or population-specific alleles, highlighting extensive allelic heterogeneity of 21-OHD and the necessity of using ethnically tailored genetic panels for accurate diagnosis and effective genetic counseling.
“Nevertheless, population-based studies continue to reveal rare or population-specific alleles, highlighting the extensive allelic heterogeneity of 21-OHD and the necessity of using ethnically tailored genetic panels for accurate diagnosis and effective genetic counseling (5, 16, 19, 22, 28, 33–35).”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [5]
Microconversion events, in which one or more deleterious pseudogene-derived variants are transferred into CYP21A2 during meiosis, represent 70-75% of all cases.
“Among these, microconversion events, in which one or more deleterious pseudogene-derived variants are transferred into CYP21A2 during meiosis, represent 70–75% of all cases (5, 16, 19, 20).”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [5]
Only 5-10% of small pathogenic variants in CYP21A2 occur independently of gene conversion events, and some of these have founder effects.
“In contrast, only 5-10% of small pathogenic variants in CYP21A2 occur independently of gene conversion events; some of these have founder effects, providing valuable insights into population history and migration patterns (5, 16, 19–22).”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [5]
The remaining 20-25% of pathogenic CYP21A2 variants are attributable to unequal meiotic crossovers, giving rise to large deletions, duplications, and chimeric CYP21A1P/CYP21A2 genes.
“The remaining 20–25% are attributable to unequal meiotic crossovers, giving rise to extensive genomic rearrangements, including large deletions, duplications, and the formation of chimeric CYP21A1P/CYP21A2 genes.”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [5]
Approximately 90-99% of cases of CAH are caused by 21-hydroxylase deficiency (21OHD) caused by mutations in the CYP21A2 gene.
“Approximately 90-99% of cases of CAH are caused by 21-hydroxylase deficiency (21OHD) caused by mutations in the CYP21A2 gene (1,2); the terms CAH and 21OHD will be used interchangeably in this article.”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [1]

Steroidogenic factor 1: a key determinant of endocrine development and function
Parker, K. L., & Schimmer, B. P. (1997) · Endocrine Reviews · doi:10.1210/edrv.18.3.0301 · Cited by 764 · see citing works
Dehydroepiandrosterone Replacement in Women with Adrenal Insufficiency
Arlt, W., Callies, F., van Vlijmen, J. C., Koehler, I., Reincke, M., Bidlingmaier, M., Huebler, D., Oettel, M., Ernst, M., Schulte, H. M., et al. (1999) · New England Journal of Medicine · doi:10.1056/nejm199909303411401 · Cited by 644 · see citing works
Genotyping steroid 21-hydroxylase deficiency: hormonal reference data
NEW, M. I., LORENZEN, F., LERNER, A. J., KOHN, B., OBERFIELD, S. E., POLLACK, M. S., DUPONT, B., STONER, E., LEVY, D. J., PANG, S., et al. (1983) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-57-2-320 · Cited by 624 · see citing works
Intraadrenal interactions in the regulation of adrenocortical steroidogenesis.
Ehrhart-Bornstein, M., Hinson, J. P., Bornstein, S. R., Scherbaum, W. A., & Vinson, G. P. (1998) · Endocrine Reviews · doi:10.1210/edrv.19.2.0326 · Cited by 600 · see citing works
Structure of human steroid 21-hydroxylase genes.
White, P. C., New, M. I., & Dupont, B. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.14.5111 · Cited by 569 · see citing works
Self-citation
Worldwide Experience in Newborn Screening for Classical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Pang, S., Wallace, M. A., Hofman, L., Thuline, H. C., Dorche, C., Lyon, I. C. T., Dobbins, R. H., Kling, S., Fujieda, K., & Suwa, S. (1988) · Journal of Urology · doi:10.1016/s0022-5347(17)42164-1 · Cited by 392 · see citing works
Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.
Carroll, M. C., Campbell, R. D., & Porter, R. R. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.2.521 · Cited by 370 · see citing works
Tenascin-X deficiency is associated with Ehlers-Danlos syndrome
Burch, G. H., Gong, Y., Liu, W., Dettman, R. W., Curry, C. J., Smith, L., Miller, W. L., & Bristow, J. (1997) · Nature Genetics · doi:10.1038/ng0997-104 · Cited by 366 · see citing works
Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia
Therrell, B. L., Berenbaum, S. A., Manter-Kapanke, V., Simmank, J., Korman, K., Prentice, L., Gonzalez, J., & Gunn, S. (1998) · Pediatrics · doi:10.1542/peds.101.4.583 · Cited by 344 · see citing works
Effects of estrogens and progestogens on the renin-aldosterone system and blood pressure
Oelkers, W. K. H. (1996) · Steroids · doi:10.1016/0039-128x(96)00007-4 · Cited by 333 · see citing works
Steroid 21-hydroxylase deficiency: genotype may not predict phenotype
Wilson, R. C. (1995) · Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.80.8.2322 · Cited by 324 · see citing works
Disorders of Steroid 11β-Hydroxylase Isozymes*
WHITE, P. C., CURNOW, K. M., & PASCOE, L. (1994) · Endocrine Reviews · doi:10.1210/edrv-15-4-421 · Cited by 271 · see citing works
Self-citation
Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus.
Tusie-Luna, M. T., Traktman, P., & White, P. C. (1990) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)45304-x · Cited by 254 · see citing works
Self-citation
Evidence for dissociation between adrenarche and gonadarche: studies in patients with idiopathic precocious puberty, gonadal dysgenesis, isolated gonadotropin deficiency, and constitutionally delayed growth and adolescence
SKLAR, C. A., KAPLAN, S. L., & GRUMBACH, M. M. (1980) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-51-3-548 · Cited by 245 · see citing works
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency
White, P. C., Vitek, A., Dupont, B., & New, M. I. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.12.4436 · Cited by 229 · see citing works
Self-citation
Effects of early prenatal dexamethasone on the cognitive and behavioral development of young children: results of a pilot study
Trautman, P. D., Meyer-Bahlburg, H. F. L., Postelnek, J., & New, M. I. (1995) · Psychoneuroendocrinology · doi:10.1016/0306-4530(94)00070-0 · Cited by 217 · see citing works
Late-onset adrenal hyperplasia in hirsutism
Kuttenn, F., Couillin, P., Girard, F., Billaud, L., Vincens, M., Boucekkine, C., Thalabard, J.-C., Maudelonde, T., Spritzer, P., Mowszowicz, I., et al. (1985) · New England Journal of Medicine · doi:10.1056/nejm198507253130404 · Cited by 213 · see citing works
Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia
KOHN, B., LEVINE, L. S., POLLACK, M. S., PANG, S., LORENZEN, F., LEVY, D., LERNER, A. J., RONDANINI, G. F., DUPONT, B., & NEW, M. I. (1982) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-55-5-817 · Cited by 204 · see citing works
Cortisol production rate in childhood and adolescence
Linder, B. L., Esteban, N. V., Yergey, A. L., Winterer, J. C., Loriaux, D. L., & Cassorla, F. (1990) · The Journal of Pediatrics · doi:10.1016/s0022-3476(05)80128-3 · Cited by 202 · see citing works
Effects of Individual Mutations in the P-450(C21) Pseudogene on the P-450(C21) Activity and Their Distribution in the Patient Genomes of Congenital Steroid 21-Hydroxylase Deficiency1
Higashi, Y., Hiromasa, T., Tanae, A., Miki, T., Nakura, J., Kondo, T., Ohura, T., Ogawa, E., Nakayama, K., & Fujii-Kuriyama, Y. (1991) · The Journal of Biochemistry · doi:10.1093/oxfordjournals.jbchem.a123433 · Cited by 201 · see citing works
Flutamide, testolactone, and reduced hydrocortisone dose maintain normal growth velocity and bone maturation despite elevated androgen levels in children with congenital adrenal hyperplasia
Merke, D. P., Keil, M. F., Jones, J. V., Fields, J., Hill, S., & Cutler, G. B. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.3.6462 · Cited by 190 · see citing works
Molecular Modeling of Human P450c17 (17α-Hydroxylase/ 17,20-Lyase): Insights into Reaction Mechanisms and Effects of Mutations
Auchus, R. J., & Miller, W. L. (1999) · Molecular Endocrinology · doi:10.1210/mend.13.7.0326 · Cited by 185 · see citing works
P450c17 Mutations R347H and R358Q Selectively Disrupt 17,20-Lyase Activity by Disrupting Interactions with P450 Oxidoreductase and Cytochrome b5
Geller, D. H., Auchus, R. J., & Miller, W. L. (1999) · Molecular Endocrinology · doi:10.1210/mend.13.1.0219 · Cited by 183 · see citing works
Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia
Rodrigues, N. R., Dunham, I., Yu, C. Y., Carroll, M. C., Porter, R. R., & Campbell, R. D. (1987) · The EMBO Journal · doi:10.1002/j.1460-2075.1987.tb02414.x · Cited by 182 · cited 1× · see citing works
“Human CYP21 normally contains 494 amino acid residues (343, 344) [a normal variant has an extra leucine within the N-terminal hydrophobic domain and thus contains 495 residues (345)] and has a molecular mass of approximately 52 kDa.”
Background
Submitochondrial distribution of three key steroidogenic proteins (steroidogenic acute regulatory protein and cytochrome P450scc and 3β-hydroxysteroid dehydrogenase isomerase enzymes) upon stimulation by intracellular calcium in adrenal glomerulosa cells
Cherradi, N., Rossier, M. F., Vallotton, M. B., Timberg, R., Friedberg, I., Orly, J., Wang, X. J., Stocco, D. M., & Capponi, A. M. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.12.7899 · Cited by 175 · see citing works
The role of androgens in male gender role behavior
Wilson, J. D. (1999) · Endocrine Reviews · doi:10.1210/edrv.20.5.0377 · Cited by 172 · see citing works
Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations
Wedell, A., & Luthman, H. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.5.499 · Cited by 160 · see citing works
Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels
Allen, D. B., Hoffman, G. L., Fitzpatrick, P., Laessig, R., Maby, S., & Slyper, A. (1997) · The Journal of Pediatrics · doi:10.1016/s0022-3476(97)70321-4 · Cited by 153 · see citing works
Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden
Thilén, A., Nordenström, A., Hagenfeldt, L., von Döbeln, U., Guthenberg, C., & Larsson, A. (1998) · PEDIATRICS · doi:10.1542/peds.101.4.e11 · Cited by 151 · see citing works
Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations
Wedell, A., Ritzén, E. M., Haglund-Stengler, B., & Luthman, H. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.15.7232 · Cited by 150 · see citing works
A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.
Chiou, S. H., Hu, M. C., & Chung, B. C. (1990) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)39804-7 · Cited by 149 · see citing works
Insulin insensitivity in adrenal hyperplasia due to nonclassical steroid 21-hydroxylase deficiency.
Speiser, P. W., Serrat, J., New, M. I., & Gertner, J. M. (1992) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.75.6.1464643 · Cited by 143 · see citing works
Self-citation
Identification by site-directed mutagenesis of two lysine residues in cholesterol side chain cleavage cytochrome P450 that are essential for adrenodoxin binding
Wada, A., & Waterman, M. R. (1992) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)50028-4 · Cited by 141 · see citing works
The effects of glucocorticoid replacement therapy on growth, bone mineral density, and bone turnover markers in children with congenital adrenal hyperplasia
Girgis, R., & Winter, J. S. D. (1997) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.82.12.4320 · Cited by 139 · see citing works
Nonsense mutation causing steroid 21-hydroxylase deficiency
Globerman, H., Amor, M., Parker, K. L., New, M. I., & White, P. C. (1988) · Journal of Clinical Investigation · doi:10.1172/jci113562 · Cited by 130 · see citing works
Self-citation
Subnormal androgen and elevated progesterone levels in women treated for congenital virilizing 21-hydroxylase deficiency
Helleday, J. (1993) · Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.76.4.933 · Cited by 111 · see citing works
The Incidence of Late-Onset Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency among Hirsute Women*
CHETKOWSKI, R. J., DEFAZIO, J., SHAMONKI, I., JUDD, H. L., & CHANG, R. J. (1984) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-58-4-595 · Cited by 108 · see citing works
Current status of neonatal screening for congenital adrenal hyperplasia
Pang, S., & Shook, M. K. (1997) · Current Opinion in Pediatrics · doi:10.1097/00008480-199708000-00018 · Cited by 104 · see citing works
Outcome of congenital adrenal hyperplasia
Kuhnle, U., & Bullinger, M. (1997) · Pediatric Surgery International · doi:10.1007/bf01258714 · Cited by 92 · see citing works
Bone mineral density in prepubertal and in adolescent and young adult patients with the salt-wasting form of congenital adrenal hyperplasia
Gussinyé, M., Carrascosa, A., Potau, N., Enrubia, M., Vicens-Calvet, E., Ibáñez, L., & Yeste, D. (1997) · PEDIATRICS · doi:10.1542/peds.100.4.671 · Cited by 90 · see citing works
Bone turnover and bone mineral density in patients with congenital adrenal hyperplasia
Guo, C., Weetman, A. P., & Eastell, R. (1996) · Clinical Endocrinology · doi:10.1046/j.1365-2265.1996.00851.x · Cited by 79 · see citing works
Magnetic resonance imaging in the congenital adrenal hyperplasia population: increased frequency of white-matter abnormalities and temporal lobe atrophy
Nass, R., Heier, L., Moshang, T., Oberfield, S., George, A., New, M. I., & Speiser, P. W. (1997) · Journal of Child Neurology · doi:10.1177/088307389701200306 · Cited by 67 · see citing works
Self-citation
Elevated 17-Hydroxyprogesterone and Testosterone in a Newborn with 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cara, J. F., Moshang, T., Bongiovanni, A. M., & Marx, B. S. (1985) · New England Journal of Medicine · doi:10.1056/nejm198509053131007 · Cited by 65 · see citing works
The steroid hormonal milieu of the undisturbed human fetus and mother at 16–20 weeks gestation
PARTSCH, C.-J., SIPPELL, W. G., MACKENZIE, I. Z., & AYNSLEY-GREEN, A. (1991) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-73-5-969 · Cited by 52 · see citing works
Salt-wasting congenital adrenal hyperplasia: Detection of mutations in CYP21B gene in a Chilean population1
Fardella, C. E., Poggi, H., Pineda, P., Soto, J., Torrealba, I., Cattani, A., Oestreicher, E., & Foradori, A. (1998) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.83.9.5071 · Cited by 35 · see citing works
The N-terminal hydrophobic domain of P450c21 is required for membrane insertion and enzyme stability
Hsu, L. C., Hu, M. C., Cheng, H. C., Lu, J. C., & Chung, B. C. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)82387-0 · Cited by 32 · see citing works
Exon 7Ncol Restriction Site within CYP21B (Steroid 21-Hydroxylase) Is a Normal Polymorphism
Donohoue, P. A., Neto, R. S., Collins, M. M., & Migeon, C. J. (1990) · Molecular Endocrinology · doi:10.1210/mend-4-9-1354 · Cited by 17 · see citing works
CYP21 pseudogene transcripts are much less abundant than those from the active gene in normal human adrenocortical cells under various conditions in culture
Endoh, A. (1998) · Molecular and Cellular Endocrinology · doi:10.1016/s0303-7207(97)00224-4 · Cited by 13 · see citing works

Flagged first, then by citations

Sorted by citations

The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
Miller, W. L., & Auchus, R. J. (2011) · Endocrine Reviews · doi:10.1210/er.2010-0013 · Cited by 2,458 · see citing works
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society Clinical Practice Guideline.
Speiser, P. W., Azziz, R., Baskin, L. S., Ghizzoni, L., Hensle, T. W., Merke, D. P., Meyer-Bahlburg, H. F. L., Miller, W. L., Montori, V. M., Oberfield, S. E., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2631 · Cited by 1,484 · see citing works
Self-citation
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline
Speiser, P. W., Arlt, W., Auchus, R. J., Baskin, L. S., Conway, G. S., Merke, D. P., Meyer-Bahlburg, H. F. L., Miller, W. L., Murad, M. H., Oberfield, S. E., et al. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-01865 · Cited by 1,234 · see citing works
Self-citation
Estrogen and cognitive functioning in women
Sherwin, B. B. (2003) · Endocrine Reviews · doi:10.1210/er.2001-0016 · Cited by 560 · see citing works
Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556 · see citing works
Self-citation
Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia
Dessens, A. B., Slijper, F. M. E., & Drop, S. L. S. (2005) · Archives of Sexual Behavior · doi:10.1007/s10508-005-4338-5 · Cited by 425 · see citing works
Development and function of the human fetal adrenal cortex: a key component in the feto-placental unit
Ishimoto, H., & Jaffe, R. B. (2011) · Endocrine Reviews · doi:10.1210/er.2010-0001 · Cited by 379 · see citing works
The backdoor pathway to dihydrotestosterone
Auchus, R. J. (2004) · Trends in Endocrinology & Metabolism · doi:10.1016/j.tem.2004.09.004 · Cited by 347 · see citing works
Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess
Meyer-Bahlburg, H. F. L., Dolezal, C., Baker, S. W., & New, M. I. (2008) · Archives of Sexual Behavior · doi:10.1007/s10508-007-9265-1 · Cited by 326 · see citing works
Minireview: Regulation of Steroidogenesis by Electron Transfer
Miller, W. L. (2005) · Endocrinology · doi:10.1210/en.2005-0096 · Cited by 324 · see citing works
Genetics of congenital adrenal hyperplasia
Krone, N., & Arlt, W. (2009) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2008.10.014 · Cited by 312 · see citing works
Puberty-related influences on brain development
Giedd, J. N., Clasen, L. S., Lenroot, R., Greenstein, D., Wallace, G. L., Ordaz, S., Molloy, E. A., Blumenthal, J. D., Tossell, J. W., Stayer, C., et al. (2006) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2006.04.016 · Cited by 300 · see citing works
High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia
Stikkelbroeck, N. M. M. L., Otten, B. J., Pasic, A., Jager, G. J., Sweep, C. G. J. F., Noordam, K., & Hermus, A. R. M. M. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.12.8090 · Cited by 305 · see citing works
In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development
Goto, M. (2006) · Journal of Clinical Investigation · doi:10.1172/jci25091 · Cited by 284 · see citing works
Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency
Draper, N., Walker, E. A., Bujalska, I. J., Tomlinson, J. W., Chalder, S. M., Arlt, W., Lavery, G. G., Bedendo, O., Ray, D. W., Laing, I., et al. (2003) · Nature Genetics · doi:10.1038/ng1214 · Cited by 285 · see citing works
Self-citation
Adrenal insufficiency: still a cause of morbidity and death in childhood
Shulman, D. I., Palmert, M. R., Kemp, S. F., & for the Lawson Wilkins Drug and Therapeutics Committee (2007) · PEDIATRICS · doi:10.1542/peds.2006-1612 · Cited by 282 · see citing works
Neonatal screening for congenital adrenal hyperplasia
White, P. C. (2009) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2009.148 · Cited by 240 · see citing works
Self-citation
Two Prevalent CYP17 Mutations and Genotype-Phenotype Correlations in 24 Brazilian Patients with 17-Hydroxylase Deficiency
Costa-Santos, M., Kater, C. E., & Auchus, R. J. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-031021 · Cited by 224 · see citing works
11-Oxygenated androgens in health and disease
Turcu, A. F., Rege, J., Auchus, R. J., & Rainey, W. E. (2020) · Nature Reviews Endocrinology · doi:10.1038/s41574-020-0336-x · Cited by 217 · see citing works
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
Bidet, M., Bellanné-Chantelot, C., Galand-Portier, M.-B., Tardy, V., Billaud, L., Laborde, K., Coussieu, C., Morel, Y., Vaury, C., Golmard, J.-L., et al. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-1582 · Cited by 213 · see citing works
Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Bidet, M., Bellanné-Chantelot, C., Galand-Portier, M.-B., Golmard, J.-L., Tardy, V., Morel, Y., Clauin, S., Coussieu, C., Boudou, P., Mowzowicz, I., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-1383 · Cited by 204 · see citing works
Increased cardiovascular and metabolic morbidity in patients with 21-hydroxylase deficiency: a Swedish population-based national cohort study
Falhammar, H., Frisén, L., Hirschberg, A. L., Norrby, C., Almqvist, C., Nordenskjöld, A., & Nordenström, A. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-2093 · Cited by 204 · see citing works
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Forest, M. G. (2004) · Human Reproduction Update · doi:10.1093/humupd/dmh047 · Cited by 200 · see citing works
Increased activation of the alternative “backdoor” pathway in patients with 21-hydroxylase deficiency: evidence from urinary steroid hormone analysis
Kamrath, C., Hochberg, Z., Hartmann, M. F., Remer, T., & Wudy, S. A. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-1997 · Cited by 191 · see citing works
One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study
Gidlöf, S., Falhammar, H., Thilén, A., von Döbeln, U., Ritzén, M., Wedell, A., & Nordenström, A. (2013) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(13)70007-x · Cited by 187 · see citing works
Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia
Turcu, A. F., & Auchus, R. J. (2015) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2015.02.002 · Cited by 177 · see citing works
Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia
Moran, C., Azziz, R., Weintrob, N., Witchel, S. F., Rohmer, V., Dewailly, D., Marcondes, J. A. M., Pugeat, M., Speiser, P. W., Pignatelli, D., et al. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0062 · Cited by 174 · see citing works
Self-citation
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations
Stikkelbroeck, N. M. M. L., Hoefsloot, L. H., de Wijs, I. J., Otten, B. J., Hermus, A. R. M. M., & Sistermans, E. A. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021681 · Cited by 171 · see citing works
Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Falhammar, H., Filipsson, H., Holmdahl, G., Janson, P.-O., Nordenskjöld, A., Hagenfeldt, K., & Thorén, M. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-1350 · Cited by 167 · see citing works
Children with classic congenital adrenal hyperplasia have elevated serum leptin concentrations and insulin resistance: potential clinical implications.
Charmandari, E., Weise, M., Bornstein, S. R., Eisenhofer, G., Keil, M. F., Chrousos, G. P., & Merke, D. P. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.5.8456 · Cited by 164 · see citing works
MANAGEMENT OF ENDOCRINE DISEASE: diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency
Nordenström, A., & Falhammar, H. (2019) · European Journal of Endocrinology · doi:10.1530/eje-18-0712 · Cited by 158 · see citing works
Fractures and bone mineral density in adult women with 21-hydroxylase deficiency
Falhammar, H., Filipsson, H., Holmdahl, G., Janson, P.-O., Nordenskjöld, A., Hagenfeldt, K., & Thorén, M. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-0744 · Cited by 151 · see citing works
A new dawn for androgens: novel lessons from 11-oxygenated C19 steroids
Pretorius, E., Arlt, W., & Storbeck, K.-H. (2017) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2016.08.014 · Cited by 142 · see citing works
Prenatal androgen exposure alters girls’ responses to information indicating gender-appropriate behaviour
Hines, M., Pasterski, V., Spencer, D., Neufeld, S., Patalay, P., Hindmarsh, P. C., Hughes, I. A., & Acerini, C. L. (2016) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2015.0125 · Cited by 136 · see citing works
Mothers with congenital adrenal hyperplasia and their children: outcome of pregnancy, birth and childhood
Krone, N., Wachter, I., Stefanidou, M., Roscher, A. A., & Schwarz, H. P. (2001) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2001.01359.x · Cited by 135 · see citing works
Congenital adrenal hyperplasia and P450 oxidoreductase deficiency
Krone, N., Dhir, V., Ivison, H. E., & Arlt, W. (2007) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2006.02740.x · Cited by 131 · see citing works
Agonistic and antagonistic properties of progesterone metabolites at the human mineralocorticoid receptor
Quinkler, M., Meyer, B., Bumke-Vogt, C., Grossmann, C., Gruber, U., Oelkers, W., Diederich, S., & Bahr, V (2002) · European Journal of Endocrinology · doi:10.1530/eje.0.1460789 · Cited by 130 · see citing works
Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort
Krone, N., Rose, I. T., Willis, D. S., Hodson, J., Wild, S. H., Doherty, E. J., Hahner, S., Parajes, S., Stimson, R. H., Han, T. S., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-3343 · Cited by 119 · see citing works
Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome
Falhammar, H., & Nordenström, A. (2015) · Endocrine · doi:10.1007/s12020-015-0656-0 · Cited by 127 · see citing works
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: alterations in cortisol pharmacokinetics at puberty
Charmandari, E., Hindmarsh, P. C., Johnston, A., & Brook, C. G. D. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.6.7522 · Cited by 134 · see citing works
Nationwide Neonatal Screening for Congenital Adrenal Hyperplasia in Sweden: A 26-Year Longitudinal Prospective Population-Based Study
Gidlöf, S., Wedell, A., Guthenberg, C., von Döbeln, U., & Nordenström, A. (2014) · JAMA Pediatrics · doi:10.1001/jamapediatrics.2013.5321 · Cited by 119 · see citing works
The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens
Caulfield, M. P., Lynn, T., Gottschalk, M. E., Jones, K. L., Taylor, N. F., Malunowicz, E. M., Shackleton, C. H. L., Reitz, R. E., & Fisher, D. A. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.8.8712 · Cited by 120 · see citing works
Compound Heterozygous Mutations in the Cholesterol Side-Chain Cleavage Enzyme Gene (CYP11A) Cause Congenital Adrenal Insufficiency in Humans
Katsumata, N., Ohtake, M., Hojo, T., Ogawa, E., Hara, T., Sato, N., & Tanaka, T. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.8.8763 · Cited by 125 · see citing works
Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report.
Roche, E. F., Charmandari, E., Dattani, M. T., & Hindmarsh, P. C. (2003) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2003.01757.x · Cited by 113 · see citing works
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
Baumgartner-Parzer, S., Witsch-Baumgartner, M., & Hoeppner, W. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-0653-5 · Cited by 110 · see citing works
Treatment with growth hormone and luteinizing hormone releasing hormone analog improves final adult height in children with congenital adrenal hyperplasia
Lin-Su, K., Vogiatzi, M. G., Marshall, I., Harbison, M. D., Macapagal, M. C., Betensky, B., Tansil, S., & New, M. I. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-2128 · Cited by 111 · see citing works
Long-Term Outcome of Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Bachelot, A., Plu-Bureau, G., Thibaud, E., Laborde, K., Pinto, G., Samara, D., Nihoul-Fékété, C., Kuttenn, F., Polak, M., & Touraine, P. (2007) · Hormone Research in Paediatrics · doi:10.1159/000098017 · Cited by 106 · see citing works
Treatment and health outcomes in adults with congenital adrenal hyperplasia
Han, T. S., Walker, B. R., Arlt, W., & Ross, R. J. (2014) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2013.239 · Cited by 102 · see citing works
Behavioral and physical masculinization are related to genotype in girls with congenital adrenal hyperplasia
Hall, C. M., Jones, J. A., Meyer-Bahlburg, H. F. L., Dolezal, C., Coleman, M., Foster, P., Price, D. A., & Clayton, P. E. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-030696 · Cited by 101 · see citing works
Pregnancy outcomes in women with congenital virilizing adrenal hyperplasia
Lo, J. C., & Grumbach, M. M. (2001) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(08)70027-6 · Cited by 98 · see citing works
Management of endocrine disease: differential diagnosis, investigation and therapy of bilateral adrenal incidentalomas
Bourdeau, I., El Ghorayeb, N., Gagnon, N., & Lacroix, A. (2018) · European Journal of Endocrinology · doi:10.1530/eje-18-0296 · Cited by 98 · see citing works
Prevalence and long-term follow-up outcomes of testicular adrenal rest tumours in children and adolescent males with congenital adrenal hyperplasia
Aycan, Z., Bas, V. N., Cetinkaya, S., Yilmaz Agladioglu, S., & Tiryaki, T. (2013) · Clinical Endocrinology · doi:10.1111/cen.12033 · Cited by 98 · see citing works
Steroid 21‐hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype–phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia
Marino, R., Ramirez, P., Galeano, J., Perez Garrido, N., Rocco, C., Ciaccio, M., Warman, D. M., Guercio, G., Chaler, E., Maceiras, M., et al. (2011) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2011.04123.x · Cited by 98 · see citing works
Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency
Auchus, R. J., Buschur, E. O., Chang, A. Y., Hammer, G. D., Ramm, C., Madrigal, D., Wang, G., Gonzalez, M., Xu, X. S., Smit, J. W., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-1258 · Cited by 97 · see citing works
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene
Concolino, P., & Costella, A. (2018) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-018-0319-y · Cited by 96 · see citing works
The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
Pignatelli, D., Carvalho, B. L., Palmeiro, A., Barros, A., Guerreiro, S. G., & Macut, D. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00432 · Cited by 95 · see citing works
Extraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase Deficiency
Gomes, L. G., Huang, N., Agrawal, V., Mendonça, B. B., Bachega, T. A. S. S., & Miller, W. L. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-1174 · Cited by 91 · see citing works
Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency
Chakhtoura, Z., Bachelot, A., Samara-Boustani, D., Ruiz, J.-C., Donadille, B., Dulon, J., Christin-Maître, S., Bouvattier, C., Raux-Demay, M.-C., Bouchard, P., et al. (2008) · European Journal of Endocrinology · doi:10.1530/eje-07-0887 · Cited by 90 · see citing works
Restoration of adrenal steroidogenesis by adenovirus-mediated transfer of human cytochromeP450 21-hydroxylase into the adrenal gland of21-hydroxylase-deficient mice
Tajima, T., Okada, T., Ma, X.-M., Ramsey, W. J., Bornstein, S. R., & Aguilera, G. (1999) · Gene Therapy · doi:10.1038/sj.gt.3301018 · Cited by 88 · see citing works
High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency
Parajes, S., Quinteiro, C., Domínguez, F., & Loidi, L. (2008) · PLoS ONE · doi:10.1371/journal.pone.0002138 · Cited by 87 · see citing works
Reduced Bone Mineral Density and Increased Bone Metabolism Rate in Young Adult Patients with 21-Hydroxylase Deficiency
Sciannamblo, M., Russo, G., Cuccato, D., Chiumello, G., & Mora, S. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-2823 · Cited by 82 · see citing works
Monogenic disorders of adrenal steroidogenesis
Baranowski, E. S., Arlt, W., & Idkowiak, J. (2018) · Hormone Research in Paediatrics · doi:10.1159/000488034 · Cited by 79 · see citing works
Biochemical and genetic diagnosis of 21-hydroxylase deficiency
Falhammar, H., Wedell, A., & Nordenström, A. (2015) · Endocrine · doi:10.1007/s12020-015-0731-6 · Cited by 80 · see citing works
Final Adult Height in Children with Congenital Adrenal Hyperplasia Treated with Growth Hormone
Lin-Su, K., Harbison, M. D., Lekarev, O., Vogiatzi, M. G., & New, M. I. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-2699 · Cited by 75 · see citing works
Profiles of 21-Carbon Steroids in 21-Hydroxylase Deficiency
Turcu, A. F., Rege, J., Chomic, R., Liu, J., Nishimoto, H. K., Else, T., Moraitis, A. G., Palapattu, G. S., Rainey, W. E., & Auchus, R. J. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-1023 · Cited by 77 · see citing works
Adrenal diseases during pregnancy: pathophysiology, diagnosis and management strategies
Kamoun, M., Mnif, M. F., Charfi, N., Kacem, F. H., Naceur, B. B., Mnif, F., Dammak, M., Rekik, N., & Abid, M. (2014) · The American Journal of the Medical Sciences · doi:10.1097/maj.0b013e31828aaeee · Cited by 77 · see citing works
Cardiovascular risk factors in children and adolescents with congenital adrenal hyperplasia due to 21‐hydroxylase deficiency
Subbarayan, A., Dattani, M. T., Peters, C. J., & Hindmarsh, P. C. (2014) · Clinical Endocrinology · doi:10.1111/cen.12265 · Cited by 73 · see citing works
Management of altered hydrocortisone pharmacokinetics in a boy with congenital adrenal hyperplasia using a continuous subcutaneous hydrocortisone infusion
Bryan, S. M., Honour, J. W., & Hindmarsh, P. C. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-0630 · Cited by 75 · see citing works
Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation
Baumgartner-Parzer, S. M., Schulze, E., Waldhäusl, W., Pauschenwein, S., Rondot, S., Nowotny, P., Meyer, K., Frisch, H., Waldhauser, F., & Vierhapper, H. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.10.7898 · Cited by 74 · see citing works
Androgen excess is due to elevated 11-oxygenated androgens in treated children with congenital adrenal hyperplasia
Kamrath, C., Wettstaedt, L., Boettcher, C., Hartmann, M. F., & Wudy, S. A. (2018) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2017.12.016 · Cited by 71 · see citing works
Asymptomatic testicular adrenal rest tumours in adolescent and adult males with congenital adrenal hyperplasia: basal and follow-up investigation after 2·6 years
Stikkelbroeck, N. M. M. L., Hermus, A. R. M. M., Suliman, H. M., Jager, G. J., & Otten, B. J. (2004) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2004.17.4.645 · Cited by 71 · see citing works
Molecular Characterization of Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia: Lesions With Both Adrenocortical and Leydig Cell Features
Smeets, E. E. J. W., Span, P. N., van Herwaarden, A. E., Wevers, R. A., Hermus, A. R. M. M., Sweep, F. C. G. J., & Claahsen-van der Grinten, H. L. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-2036 · Cited by 70 · see citing works
Microconversion betweenCYP21A2andCYP21A1PPromoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency
Araújo, R. S., Mendonca, B. B., Barbosa, A. S., Lin, C. J., Marcondes, J. A. M., Billerbeck, A. E. C., & Bachega, T. A. S. S. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-2163 · Cited by 70 · see citing works
Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients
Riedl, S., Röhl, F.-W., Bonfig, W., Brämswig, J., Richter-Unruh, A., Fricke-Otto, S., Bettendorf, M., Riepe, F., Kriegshäuser, G., Schönau, E., et al. (2019) · Endocrine Connections · doi:10.1530/ec-18-0281 · Cited by 69 · see citing works
Comparison of one-tier and two-tier newborn screening metrics for congenital adrenal hyperplasia
Sarafoglou, K., Banks, K., Gaviglio, A., Hietala, A., McCann, M., & Thomas, W. (2012) · PEDIATRICS · doi:10.1542/peds.2012-1219 · Cited by 69 · see citing works
A sensitive and rapid mass spectrometric method for the simultaneous measurement of eight steroid hormones and CALIPER pediatric reference intervals
Kyriakopoulou, L., Yazdanpanah, M., Colantonio, D. A., Chan, M. K., Daly, C. H., & Adeli, K. (2013) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2013.01.002 · Cited by 68 · see citing works
Ovarian adrenal rest tumor in a congenital adrenal hyperplasia patient with adrenocorticotropin hypersecretion following adrenalectomy
Tiosano, D., Vlodavsky, E., Filmar, S., Weiner, Z., Goldsher, D., & Bar-Shalom, R. (2010) · Hormone Research in Paediatrics · doi:10.1159/000295722 · Cited by 65 · see citing works
Newborn screening for congenital adrenal hyperplasia in New Zealand, 1994-2013
Heather, N. L., Seneviratne, S. N., Webster, D., Derraik, J. G. B., Jefferies, C., Carll, J., Jiang, Y., Cutfield, W. S., & Hofman, P. L. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-3168 · Cited by 65 · see citing works
Aldosterone-to-renin ratio as a marker for disease severity in 21-hydroxylase deficiency congenital adrenal hyperplasia
Nimkarn, S., Lin-Su, K., Berglind, N., Wilson, R. C., & New, M. I. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0964 · Cited by 63 · see citing works
Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency
Charmandari, E., Eisenhofer, G., Mehlinger, S. L., Carlson, A., Wesley, R., Keil, M. F., Chrousos, G. P., New, M. I., & Merke, D. P. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.7.8664 · Cited by 70 · see citing works
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as adrenal incidentaloma: a systematic review and meta-analysis
Falhammar, H., & Torpy, D. J. (2016) · Endocrine Practice · doi:10.4158/ep151085.ra · Cited by 63 · see citing works
Prenatal treatment of congenital adrenal hyperplasia: risks outweigh benefits
Miller, W. L., & Witchel, S. F. (2013) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2012.10.885 · Cited by 62 · see citing works
Bilateral Adrenalectomy in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis
MacKay, D., Nordenström, A., & Falhammar, H. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-00217 · Cited by 59 · see citing works
Bone Mineral Density in Adults With Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis
Rangaswamaiah, S., Gangathimmaiah, V., Nordenstrom, A., & Falhammar, H. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.00493 · Cited by 59 · see citing works
A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1)
Parajes, S., Kamrath, C., Rose, I. T., Taylor, A. E., Mooij, C. F., Dhir, V., Grötzinger, J., Arlt, W., & Krone, N. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-1277 · Cited by 59 · see citing works
Steroid profiling for congenital adrenal hyperplasia by tandem mass spectrometry as a second-tier test reduces follow-up burdens in a tertiary care hospital: a retrospective and prospective evaluation
Seo, J. Y., Park, H.-D., Kim, J. W., Oh, H. J., Yang, J. S., Chang, Y. S., Park, W. S., & Lee, S.-Y. (2014) · jpme · doi:10.1515/jpm-2013-0154 · Cited by 55 · see citing works
Working memory performance is reduced in children with congenital adrenal hyperplasia
Browne, W. V., Hindmarsh, P. C., Pasterski, V., Hughes, I. A., Acerini, C. L., Spencer, D., Neufeld, S., & Hines, M. (2015) · Hormones and Behavior · doi:10.1016/j.yhbeh.2014.11.014 · Cited by 54 · see citing works
Congenital adrenal hyperplasia – pharmacologic interventions from the prenatal phase to adulthood
Claahsen-van der Grinten, H. L., Stikkelbroeck, N. M. M. L., Otten, B. J., & Hermus, A. R. M. M. (2011) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2011.05.004 · Cited by 53 · see citing works
Plasma renin measurements are unrelated to mineralocorticoid replacement dose in patients with primary adrenal insufficiency
Pofi, R., Prete, A., Thornton-Jones, V., Bryce, J., Ali, S. R., Faisal Ahmed, S., Balsamo, A., Baronio, F., Cannuccia, A., Guven, A., et al. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgz055 · Cited by 53 · see citing works
Is physiological glucocorticoid replacement important in children?
Porter, J., Blair, J., & Ross, R. J. (2017) · Archives of Disease in Childhood · doi:10.1136/archdischild-2015-309538 · Cited by 50 · see citing works
Does an altered leptin axis play a role in obesity among children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Völkl, T. M. K., Simm, D., Körner, A., Rascher, W., Kiess, W., Kratzsch, J., & Dörr, H. G. (2009) · European Journal of Endocrinology · doi:10.1530/eje-08-0770 · Cited by 49 · see citing works
Pregnancy in women with nonclassic congenital adrenal hyperplasia: time to conceive and outcome
Eyal, O., Ayalon‐Dangur, I., Segev‐Becker, A., Schachter‐Davidov, A., Israel, S., & Weintrob, N. (2017) · Clinical Endocrinology · doi:10.1111/cen.13429 · Cited by 47 · see citing works
Development and Testing in Healthy Adults of Oral Hydrocortisone Granules With Taste Masking for the Treatment of Neonates and Infants With Adrenal Insufficiency
Whitaker, M. J., Spielmann, S., Digweed, D., Huatan, H., Eckland, D., Johnson, T. N., Tucker, G., Krude, H., Blankenstein, O., & Ross, R. J. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-4060 · Cited by 48 · see citing works
A new CYP21A1P/CYP21A2chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form
Concolino, P., Mello, E., Minucci, A., Giardina, E., Zuppi, C., Toscano, V., & Capoluongo, E. (2009) · BMC Medical Genetics · doi:10.1186/1471-2350-10-72 · Cited by 47 · see citing works
Non‐classical 21‐hydroxylase deficiency in children: association of adrenocorticotropic hormone‐stimulated 17‐hydroxyprogesterone with the risk of compound heterozygosity with severe mutations
Ezquieta, B., Cueva, E., Varela, J., Oliver, A., Fernández, J., & Jariego, C. (2002) · Acta Paediatrica · doi:10.1080/080352502760148595 · Cited by 47 · see citing works
Tildacerfont in Adults With Classic Congenital Adrenal Hyperplasia: Results from Two Phase 2 Studies
Sarafoglou, K., Barnes, C. N., Huang, M., Imel, E. A., Madu, I.-J., Merke, D. P., Moriarty, D., Nakhle, S., Newfield, R. S., Vogiatzi, M. G., et al. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgab438 · Cited by 46 · see citing works
The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene
Rocha, R. O., Billerbeck, A. E. C., Pinto, E. M., Melo, K. F. S., Lin, C. J., Longui, C. A., Mendonca, B. B., & Bachega, T. A. S. S. (2008) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2007.03023.x · Cited by 43 · see citing works
Functional analysis of human cytochrome P450 21A2 variants involved in congenital adrenal hyperplasia
Wang, C., Pallan, P. S., Zhang, W., Lei, L., Yoshimoto, F. K., Waterman, M. R., Egli, M., & Guengerich, F. P. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m117.792465 · Cited by 43 · see citing works
Absence of increased height velocity in the first year of life in untreated children with simple virilizing congenital adrenal hyperplasia
Claahsen-van der Grinten, H. L., Noordam, K., Borm, G. F., & Otten, B. J. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-1701 · Cited by 42 · see citing works
Effects of chromosomal sex and hormonal influences on shaping sex differences in brain and behavior: Lessons from cases of disorders of sex development
Bramble, M. S., Lipson, A., Vashist, N., & Vilain, E. (2017) · Journal of Neuroscience Research · doi:10.1002/jnr.23832 · Cited by 42 · see citing works

Authors: White, P. C., & Speiser, P. W.
Affiliations: The University of Texas Southwestern Medical Center (US)
North Shore University Hospital (US)
Corresponding author: White, Perrin C.
ORCID: White, Perrin C.
Speiser, Phyllis W.
Venue: Endocrine Reviews
Publisher: The Endocrine Society
Published: 2000-06-01
Volume: 21
Issue: 3
Pages: 245-291
ISSN: 0163-769X (ISSN-L)
1945-7189
DOI: 10.1210/edrv.21.3.0398
OpenAlex: W2148614804
Cited by: 1,432
References: 48
Citations by year: 2026: 16 · 2025: 20 · 2024: 58 · 2023: 47 · 2022: 43 · 2021: 51 · 2020: 57 · 2019: 58 · 2018: 41 · 2017: 99 · 2016: 49 · 2015: 60 · 2014: 69 · 2013: 69 · 2012: 69
FWCI: 3.27
Type: journal article
Language: en
Open access: closed
Locations: Endocrine Reviews (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health (5r37dk037867-17)
National Institute of Diabetes and Digestive and Kidney Diseases (R37 DK-37867)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords: congenital adrenal hyperplasia, 21-hydroxylase deficiency, CYP21, intergenic recombination, gene conversion, unequal crossover, salt-wasting crisis, prenatal diagnosis, newborn screening, glucocorticoid replacement therapy, mineralocorticoid replacement, hyperandrogenism, cortisol production
MeSH terms: Adrenal Cortex Hormones, Adrenal Glands, Adrenal Hyperplasia, Congenital, Amino Acid Sequence, Base Sequence, Female, Genotype, Glucocorticoids, Humans, Male, Molecular Sequence Data, Mutation, Phenotype, Disorders of Sex Development, Steroid 21-Hydroxylase, Structure-Activity Relationship

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency*

Abstract

Integrity signals

Claims the paper makes

Claims other papers make about this one

Cites

Cited by

Record

About these checks