Cited by 315Sexual Differentiation and DisordersAdrenal Hormones and DisordersOvarian function and disorders

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Nonclassical 21-Hydroxylase Deficiency

New, Maria I.·2006·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/jc.2006-1645

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Abstract

Context: Nonclassical congenital adrenal hyperplasia (CAH) owing to steroid 21-hydroxylase deficiency (NC21OHD) is the most frequent of all autosomal recessive genetic diseases, occurring in one in 100 persons in the heterogeneous New York City population. NC21OHD occurs with increased frequency in certain ethnic groups, such as Ashkenazi Jews, in whom one in 27 express the disease. NC21OHD is underdiagnosed in both male and female patients with hyperandrogenic symptoms because hormonal abnormalities in NC21OHD are only mild to moderate, not severe as in the classical form of CAH. Unlike classical CAH, NC21OHD is not associated with ambiguous genitalia of the newborn female. Main Outcome Measures: The hyperandrogenic symptoms include advanced bone age, early pubic hair, precocious puberty, tall stature, and early arrest of growth in children; infertility, cystic acne, and short stature in both adult males and females; hirsutism, frontal balding, polycystic ovaries, and irregular menstrual periods in females; and testicular adrenal rest tissue in males. Conclusions: The signs and symptoms of hyperandrogenism are reversed with dexamethasone treatment.

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Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome
(2004) · Fertility and Sterility · doi:10.1016/j.fertnstert.2003.10.004 · Cited by 9,050
Clinical assessment of body hair growth in women.
Ferriman, D., & Gallwey, J. D. (1961) · Journal of Clinical Endocrinology and Metabolism · doi:10.1210/jcem-21-11-1440 · Cited by 2,556
Men at risk: occupation and male infertility.
Claman, P. (2004) · Fertility and Sterility · doi:10.1016/s0015-0282(03)01188-9 · Cited by 2,219
The P450 Superfamily: Update on New Sequences, Gene Mapping, and Recommended Nomenclature
Nebert, D. W., Nelson, D. R., Coon, M. J., Estabrook, R. W., Feyereisen, R., Fujii‐Kuriyama, Y., Gonzalez, F. J., Guengerich, F. P., GUNSALUS, I. C., Johnson, E. F., et al. (1991) · DNA and Cell Biology · doi:10.1089/dna.1991.10.1 · Cited by 1,086
LIPID NEPHROTOXICITY IN CHRONIC PROGRESSIVE GLOMERULAR AND TUBULO-INTERSTITIAL DISEASE
Moorhead, J. F., El-Nahas, M., Chan, M. K., & Varghese, Z. (1982) · The Lancet · doi:10.1016/s0140-6736(82)91513-6 · Cited by 1,070
Classification of the types of androgenetic alopecia (common baldness) occurring in the female sex
Ludwig, E. (1977) · British Journal of Dermatology · doi:10.1111/j.1365-2133.1977.tb15179.x · Cited by 881
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
Self-citation
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Speiser, P. W., Dupont, J., Zhu, D., Serrat, J., Buegeleisen, M., Tusie-Luna, M. T., Lesser, M., New, M. I., & White, P. C. (1992) · Journal of Clinical Investigation · doi:10.1172/jci115897 · Cited by 572
Self-citation
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
Self-citation
Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.
Higashi, Y., Yoshioka, H., Yamane, M., Gotoh, O., & Fujii-Kuriyama, Y. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.9.2841 · Cited by 555
High frequency of nonclassical steroid 21-hydroxylase deficiency
SPEISER, P. W., DUPONT, B. O., RUBINSTEIN, P., PIAZZA, A., KASTELAN, A., & NEW, M. I. (1986) · Obstetrical & Gynecological Survey · doi:10.1097/00006254-198604000-00017 · Cited by 523
Self-citation
Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man
White, P. C., Grossberger, D., Onufer, B. J., Chaplin, D. D., New, M. I., Dupont, B., & Strominger, J. L. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.4.1089 · Cited by 490
Self-citation
The structural basis of the multiple forms of human complement component C4
Belt, K., Carroll, M. C., & Porter, R. R. (1984) · Cell · doi:10.1016/0092-8674(84)90040-0 · Cited by 417
Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency)
Dupont, B., Oberfield, S. E., Smithwick, E. M., Lee, T. D., & Levine, L. S. (1977) · The Lancet · doi:10.1016/s0140-6736(77)90362-2 · Cited by 371
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
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
Self-citation
HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation.
White, P. C., New, M. I., & Dupont, B. (1984) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.81.23.7505 · Cited by 292
Self-citation
The human gene mutation database
Krawczak, M. (1997) · Trends in Genetics · doi:10.1016/s0168-9525(97)01068-8 · Cited by 261
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
Mutation in the CYP21B gene (Ile-172-Asn) causes steroid 21-hydroxylase deficiency
Amor, M., Parker, K. L., Globerman, H., New, M. I., & White, P. C. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.5.1600 · Cited by 251
Self-citation
Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products
Higashi, Y., Tanae, A., Inoue, H., Hiromasa, T., & Fujii-Kuriyama, Y. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.20.7486 · Cited by 244
Long Term Outcome in Adult Males with Classic Congenital Adrenal Hyperplasia
Cabrera, M. S., Vogiatzi, M. G., & New, M. I. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.7.7668 · Cited by 234
Self-citation
Gender development in women with congenital adrenal hyperplasia as a function of disorder severity
Meyer-Bahlburg, H. F. L., Dolezal, C., Baker, S. W., Ehrhardt, A. A., & New, M. I. (2006) · Archives of Sexual Behavior · doi:10.1007/s10508-006-9068-9 · Cited by 234
Self-citation
Molecular Genetic Analysis of Nonclassic Steroid 21-Hydroxylase Deficiency Associated with HLA-B14,DR1
Speiser, P. W., New, M. I., & White, P. C. (1988) · New England Journal of Medicine · doi:10.1056/nejm198807073190104 · Cited by 205
Self-citation
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
Self-citation
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
Androgen Excess in Cystic Acne
Marynick, S. P., Chakmakjian, Z. H., McCaffree, D. L., & Herndon, J. H. (1983) · New England Journal of Medicine · doi:10.1056/nejm198304283081701 · Cited by 191
Adult Height and Fertility in Men with Congenital Virilizing Adrenal Hyperplasia
Urban, M. D., Lee, P. A., & Migeon, C. J. (1978) · New England Journal of Medicine · doi:10.1056/nejm197812212992505 · Cited by 191
A Mutation (Pro-30 to Leu) in CYP 21 Represents a Potential Nonclassic Steroid 21-Hydroxylase Deficiency Allele
Tusie-Luna, M.-T., Speiser, P. W., Dumic, M., New, M. I., & White, P. C. (1991) · Molecular Endocrinology · doi:10.1210/mend-5-5-685 · Cited by 183
Self-citation
Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess
New, M. I., & Wilson, R. C. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.22.12790 · Cited by 164
Self-citation
Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.
(1991) · Europe PMC (PubMed Central) · Cited by 164
Adult manifestation of congenital adrenal hyperplasia due to incomplete 21-hydroxylase deficiency mimicking polycystic ovarian disease
Løbo, R. A., & Goebelsmann, U. (1980) · American Journal of Obstetrics and Gynecology · doi:10.1016/0002-9378(80)90095-2 · Cited by 157
Adrenal Androgen Hyperresponsiveness to Adrenocorticotropin in Women with Acne and/or Hirsutism: Adrenal Enzyme Defects and Exaggerated Adrenarche*
Lucky, A. W., Rosenfield, R. L., McGUIRE, J., Rudy, S. J., & Helke, J. (1986) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-62-5-840 · Cited by 157
Clinical and Biological Phenotypes in Late-Onset 21 Hydroxylase Deficiency
DEWAILLY, D., VANTYGHEM-HAUDIQUET, M.-C., SAINSARD, C., BUVAT, J., CAPPOEN, J. P., ARDAENS, K., RACADOT, A., LEFEBVRE, J., & FOSSATI, P. (1986) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-63-2-418 · Cited by 151
Genetic Defects of Steroidogenesis in Premature Pubarche*
Temeck, J. W., Pang, S., Nelson, C. P., & New, M. I. (1987) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-64-3-609 · Cited by 150
Self-citation
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
Growth of Patients with 21-Hydroxylase Deficiency: An Analysis of the Factors Influencing Adult Height
Jääskeläinen, J., & Voutilainen, R. (1997) · Pediatric Research · doi:10.1203/00006450-199701000-00005 · Cited by 144
Phenotype-Genotype Correlation in 56 Women with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Deneux, C., Tardy, V., Dib, A., Mornet, E., Billaud, L., Charron, D., Morel, Y., & Kuttenn, F. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.86.1.207 · Cited by 144
Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene
Wilson, R. C., Wei, J., Cheng, K. C., Mercado, A. B., & New, M. I. (1995) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.80.5.7745011 · Cited by 134
Self-citation
Two steroid 21-hydroxylase genes are located in the murine S region
White, P. C., Chaplin, D., Weis, J. H., Dupont, B., New, M. I., & Seidman, J. G. (1984) · Nature · doi:10.1038/312465a0 · Cited by 133
Self-citation
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
Self-citation
Frequent deletion and duplication of the steroid 21-hydroxylase genes.
WERKMEISTER, J. W., New, M. I., Dupont, B., & White, P. C. (1986) · PubMed · Cited by 129
Self-citation
Mutations in steroid 21-hydroxylase (CYP21)
White, P. C., Tusie-Luna, M.-T., New, M. I., & Speiser, P. W. (1994) · Human Mutation · doi:10.1002/humu.1380030408 · Cited by 129
Self-citation
R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.
Helmberg, A., Tusie-Luna, M. T., Tabarelli, M., Kofler, R., & White, P. C. (1992) · Molecular Endocrinology · doi:10.1210/mend.6.8.1406709 · Cited by 123
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
Self-citation
Cryptic 21-Hydroxylase Deficiency in Families of Patients with Classical Congenital Adrenal Hyperplasia*
Levine, L. S., Dupont, B., LORENZEN, F., PANG, S., Pollack, M. S., Oberfield, S. E., Kohn, B., Lerner, A. J., CACCIARI, E., Mantero, F., et al. (1980) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-51-6-1316 · Cited by 111
Self-citation
Untitled work
(1988) · PubMed · Cited by 110
Self-citation
Cloning and expression of cDNA encoding a bovine adrenal cytochrome P-450 specific for steroid 21-hydroxylation.
White, P. C., New, M. I., & Dupont, B. (1984) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.81.7.1986 · Cited by 107
Self-citation
An Attenuated Form of Congenital Virilizing Adrenal Hyperplasia*
Rosenwaks, Z., Lee, P. A., Jones, G. S., Migeon, C. J., & Wentz, A. C. (1979) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-49-3-335 · Cited by 102
CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency
Balsamo, A., Cicognani, A., Baldazzi, L., Barbaro, M., Baronio, F., Gennari, M., Bal, M., Cassio, A., Kontaxaki, K., & Cacciari, E. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-030123 · Cited by 102
Follow-Up of 68 Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Relevance of Genotype for Management
Pinto, G., Tardy, V., Trivin, C., Thalassinos, C., Lortat-Jacob, S., Nihoul-Fékété, C., Morel, Y., & Brauner, R. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021433 · Cited by 101
Fertility in Women With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Stikkelbroeck, N. M. M. L., Hermus, A. R., Braat, D. D. M., & Otten, B. J. (2003) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000062966.93819.5b · Cited by 95
High Incidence of Molecular Defects of the CYP21 Gene in Patients with Premature Adrenarche
Dacou‐Voutetakis, C., & Dracopoulou, M. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.5.5683 · Cited by 95
Male infertility due to congenital adrenal hyperplasia: testicular biopsy findings, hormonal evaluation, and therapeutic results in three patients
Bonaccorsi, A. C., Adler, I., & Figueiredo, J. G. (1987) · Fertility and Sterility · doi:10.1016/s0015-0282(16)59119-5 · Cited by 93
A multicenter study of women with nonclassical congenital adrenal hyperplasia: relationship between genotype and phenotype
Speiser, P. W., Knochenhauer, E. S., Dewailly, D., Fruzzetti, F., Marcondes, J. A. M., & Azziz, R. (2000) · Molecular Genetics and Metabolism · doi:10.1006/mgme.2000.3036 · Cited by 89
Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene
Wedell, A., & Luthman, H. (1993) · Human Genetics · doi:10.1007/bf00218263 · Cited by 81
Rearrangement of 21-hydroxylase genes in disease-associated MHC supratypes
Garlepp, M. J., Wilton, A. N., Dawkins, R. L., & White, P. C. (1986) · Immunogenetics · doi:10.1007/bf00377968 · Cited by 80
The effect of treatment of final height in classical congenital adrenal hyperplasia (CAH)
DiMartino-Nardi, J., Stoner, E., O'Connell, A., & New, M. I. (1986) · European Journal of Endocrinology · doi:10.1530/acta.0.112s305 · Cited by 79
Self-citation
Abnormal Adrenal Responses to Adrenocorticotropic Hormone in Hyperandrogenic Women
Gibson, M., Lackritz, R. M., Schiff, I., & Tulchinsky, D. (1980) · Fertility and Sterility · doi:10.1016/s0015-0282(16)44475-4 · Cited by 77
Isolated precocious pubarche: an approach
Balducci, R., Boscherini, B., Mangiantini, A., Morellini, M., & Toscano, V. (1994) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.79.2.8045980 · Cited by 72
“ACQUIRED” ADRENAL HYPERPLASIA WITH 21-HYDROXYLASE DEFICIENCY IS NOT THE SAME GENETIC DISORDER AS CONGENITAL ADRENAL HYPERPLASIA
New, M. I., LORENZEN, F., PANG, S., Günczler, P., Dupont, B., & Levine, L. S. (1979) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-48-2-356 · Cited by 71
Self-citation
Prevalence of ovarian adrenal rest tumours and polycystic ovaries in females with congenital adrenal hyperplasia: results of ultrasonography and MR imaging
Stikkelbroeck, N. M. L., Hermus, A. M. M., Schouten, D., Suliman, H., Jager, G., Braat, D. M., & Otten, B. (2004) · European Radiology · doi:10.1007/s00330-004-2329-x · Cited by 71
Carrier status for steroid 21-hydroxylase deficiency is only one factor in the variable phenotype of acne
Ostlere, L. S., Rumsby, G., Holownia, P., Jacobs, H. S., Rustin, M. H. A., & Honour, J. W. (1998) · Clinical Endocrinology · doi:10.1046/j.1365-2265.1998.00381.x · Cited by 69
Long Term Outcome in Adult Males With Classic Congenital Adrenal Hyperplasia
Jarow, J. P. (2002) · The Journal of Urology · doi:10.1097/00005392-200208000-00120 · Cited by 66
REVERSIBLE MALE INFERTILITY DUE TO CONGENITAL ADRENAL HYPERPLASIA
WISCHUSEN, J., Baker, H. W. G., & Hudson, B. (1981) · Clinical Endocrinology · doi:10.1111/j.1365-2265.1981.tb02967.x · Cited by 63
Prevalence of Nonclassical Steroid 21-Hydroxylase Deficiency Based on a Morning Salivary 17-hydroxyprogesterone Screening Test: A Small Sample Study*
Zerah, M., Ueshiba, H., Wood, E. A., Speiser, P., Crawford, C., MCDONALD, T., PAREIRA, J., Gruen, D., & New, M. I. (1990) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-70-6-1662 · Cited by 59
Self-citation
Untitled work
(1988) · PubMed · Cited by 59
Self-citation
Genotype‐phenotype analysis in late onset 21‐hydroxylase deficiency in comparison to the classical forms
Rumsby, Avey, Conway, & Honour (1998) · Clinical Endocrinology · doi:10.1046/j.1365-2265.1998.00402.x · Cited by 58
The Effect of Long Acting Glucocorticoids on Menstrual Abnormalities in Patients with Virilizing Congenital Adrenal Hyperplasia*
Richards, G. E., Grumbach, M. M., Kaplan, S. L., & Conte, F. A. (1978) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-47-6-1208 · Cited by 56
Ovarian `Tumor' of the Adrenogenital Syndrome
Al‐Ahmadie, H. A., Stanek, J. W., LIU, J. H., Mangu, P. N., Niemann, T., & Young, R. H. (2001) · The American Journal of Surgical Pathology · doi:10.1097/00000478-200111000-00015 · Cited by 55
Growth and body proportions in congenital adrenal hyperplasia.
Young, M. C., Ribeiro, J., & Hughes, I. A. (1989) · Archives of Disease in Childhood · doi:10.1136/adc.64.11.1554 · Cited by 55
Early growth is not increased in untreated moderately severe 21‐hydroxylase deficiency
Thilén, A., Woods, K., Perry, L., Savage, M. O., Wedell, A., & Ritzén, E. M. (1995) · Acta Paediatrica · doi:10.1111/j.1651-2227.1995.tb13788.x · Cited by 53
Functional Analysis of Two Recurrent Amino Acid Substitutions in theCYP21Gene from Italian Patients with Congenital Adrenal Hyperplasia
Barbaro, M., Lajić, S., Baldazzi, L., Balsamo, A., Pirazzoli, P., Cicognani, A., Wedell, A., & CACCIARI, E. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-031630 · Cited by 52
Validation and Clinical Application of a Locus-Specific Polymerase Chain Reaction- and Minisequencing-Based Assay for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency)
Keen‐Kim, D., Redman, J. B., Alanes, R. U., Eachus, M. M., Wilson, R. C., New, M. I., Nakamoto, J. M., & Fenwick, R. G. (2005) · Journal of Molecular Diagnostics · doi:10.1016/s1525-1578(10)60550-8 · Cited by 52
Self-citation
Ovarian adrenal-like tissue in congenital adrenal hyperplasia
Russo, G., Paesano, P., Taccagni, G., Del Maschio, A., & Chiumello, G. (1998) · New England Journal of Medicine · doi:10.1056/nejm199809173391220 · Cited by 50
Reversible male infertility in late onset congenital adrenal hyperplasia
Augarten, A., Weissenberg, R., Pariente, C., & Sack, J. (1991) · Journal of Endocrinological Investigation · doi:10.1007/bf03346799 · Cited by 47
Adrenal Steroidogenic Function in a Black and Hispanic Population with Precocious Pubarche
Oberfield, S. E., Mayes, D. M., & Levine, L. S. (1990) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-70-1-76 · Cited by 44
Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia
Torres, N., de Mello, M. P., Germano, C. M. R., Elias, L. L. K., Moreira, A. C., & de Castro, M. (2003) · Brazilian Journal of Medical and Biological Research · doi:10.1590/s0100-879x2003001000006 · Cited by 43
ADRENAL STEROIDOGENESIS IN HIRSUTE WOMEN
Child, D. F., Bu'Lock, D. E., & Anderson, D. C. (1980) · Clinical Endocrinology · doi:10.1111/j.1365-2265.1980.tb01381.x · Cited by 42
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
Tükel, T., Uyguner, Z. O., Wei, J., Yüksel‐Apak, M., Saka, N., Song, D.-X., Kayserili, H., Baş, F., Günöz, H., Wilson, R. C., et al. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-030813 · Cited by 42
Self-citation
Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Speisere, P. W., New, M. I., Tannin, G. M., Pickering, D. E., Yang, S. Y., & White, P. C. (1992) · Human Genetics · doi:10.1007/bf02265290 · Cited by 42
Self-citation
17-Hydroxyprogesterone Responses to Adrenocorticotropin in Children with Premature Adrenarche*
Granoff, A. B., Chasalow, F. I., & Blethen, S. L. (1985) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-60-3-409 · Cited by 42
Unilateral Testicular Enlargement Resulting from Inapparent 21-Hybroxylase Deficiency
Chrousos, G. P., Loriaux, D. L., Sherins, R. J., & Cutler, G. B. (1981) · The Journal of Urology · doi:10.1016/s0022-5347(17)54411-0 · Cited by 36
Frequent Deletion and Duplication of the Steroid 21-Hydroxylase Genes
WERKMEISTER, J. W., New, M. I., Dupont, B., & White, P. C. (1987) · Obstetrical & Gynecological Survey · doi:10.1097/00006254-198709000-00015 · Cited by 34
Self-citation
An update on the frequency of nonclassic deficiency of adrenal 21-hydroxylase in the Yugoslav population
Dumić, M., Brkljačić, L., Speiser, P. W., Wood, E., Crawford, C., Plavšić, V., Baničeviác, M., Radmanović, S., Radica, A., Kaštelan, A., et al. (1990) · Acta Endocrinologica · doi:10.1530/acta.0.1220703 · Cited by 33
Self-citation
[Final height in 69 patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
David, M., Sempe, M., Blanc, M., Nicolino, M. P., Forest, M., & Morel, Y. (1994) · PubMed · Cited by 32
The Partial Adrenocortical Hydroxylase Deficiency Syndrome in Infertile Women
Birnbaum, M. D., & Rose, L. I. (1979) · Fertility and Sterility · doi:10.1016/s0015-0282(16)44355-4 · Cited by 31
Update: Prenatal Diagnosis for Congenital Adrenal Hyperplasia in 595 Pregnancies
New, M. I., Carlson, A. D., Obeid, J. S., Marshall, I. H., Cabrera, M. S., Goseco, A., Lin‐Su, K., Putnam, A. S., Wei, J., & Wilson, R. C. (2003) · The Endocrinologist · doi:10.1097/01.ten.0000081685.21823.46 · Cited by 29
Self-citation
ADRENAL VIRILISM DUE TO 21-HYDROXYLASE DEFICIENCY IN THE POSTMENARCHIAL FEMALE
Riddick, D. H., & Hammond, C. B. (1975) · Obstetrical & Gynecological Survey · doi:10.1097/00006254-197507000-00017 · Cited by 23
The Consequences of Hyperandrogenism in Young Women
London, D. R. (1987) · Journal of the Royal Society of Medicine · doi:10.1177/014107688708001206 · Cited by 7
'Cryptic' form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in the Yugoslav population
Dumić, M., Brkljačić, L., Mardesić, D., Plavšić, V., Lukenda, M., & Kaštelan, A. (1985) · European Journal of Endocrinology · doi:10.1530/acta.0.1090386 · Cited by 7
Nonclassic 21-Hydroxylase Deficiency in Croatia
Dumić, M., Ule, J., Žunec, R., Plavšić, V., Francetić, I., Škrabić, V., Janjanin, N., Špehar, A., Wei, J.-Q., Wilson, R. C., et al. (2004) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2004.17.2.157 · Cited by 5
Self-citation

Research works printed but not linked: 4

Prader, 1973, Fertility in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Acta Endocrinol (Copenh), 177, 57
Meyer-Bahlburg, Arch Sex Behav
Meyer-Bahlburg, Sexual orientation of 46,XX women with CAH in relation to degree of prenatal androgenization and molecular genotype., 61
Meyer-Bahlburg, 2005, Variation of sexual functioning with subtype and surgical history in women with congenital adrenal hyperplasia (CAH), Horm Res, 64, 331

Sorted by citations

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 1,468
Congenital adrenal hyperplasia
El-Maouche, D., Arlt, W., & Merke, D. P. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31431-9 · Cited by 669
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
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
New, M. I., Abraham, M., Gonzalez, B., Dumic, M., Razzaghy-Azar, M., Chitayat, D., Sun, L., Zaidi, M., Wilson, R. C., & Yuen, T. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1300057110 · Cited by 365
Self-citation
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project
Ceyhan‐Birsoy, O., Murry, J. B., Machini, K., Lebo, M. S., Yu, T. W., Fayer, S., Genetti, C. A., Schwartz, T. S., Agrawal, P. B., Parad, R. B., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.11.016 · Cited by 307

See all 315

Authors: New, M. I.
Affiliations: Icahn School of Medicine at Mount Sinai (US)
Corresponding author: New, Maria I.
Venue: The Journal of Clinical Endocrinology & Metabolism
Publisher: The Endocrine Society
Published: 2006-11-01
Volume: 91
Issue: 11
Pages: 4205-4214
ISSN: 0021-972X (ISSN-L)
1945-7197
DOI: 10.1210/jc.2006-1645
OpenAlex: W2078319644
Cited by: 315
References: 102
Citations by year: 2026: 3 · 2025: 7 · 2024: 10 · 2023: 16 · 2022: 12 · 2021: 10 · 2020: 13 · 2019: 17 · 2018: 7 · 2017: 18 · 2016: 21 · 2015: 19 · 2014: 20 · 2013: 22 · 2012: 17
FWCI: 1.38
Type: journal article
Language: en
Open access: closed
Locations: The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
PubMed (publishedVersion)
Funders: National Center for Research Resources (RR19484, U54RR019484)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 00072)
Topics: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
Keywords: non-classical congenital adrenal hyperplasia, 21-hydroxylase deficiency, hyperandrogenism, Ashkenazi Jews, ethnic prevalence, precocious puberty, hirsutism, polycystic ovary syndrome, dexamethasone treatment, autosomal recessive inheritance
MeSH terms: Adrenal Hyperplasia, Congenital, Awareness, Female, Gene Frequency, Genotype, Humans, Metabolism, Inborn Errors, Models, Biological, Molecular Biology, Phenotype, Prenatal Diagnosis, Steroid 21-Hydroxylase

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Nonclassical 21-Hydroxylase Deficiency

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