Screening for 21-hydroxylase–deficient nonclassic adrenal hyperplasia among hyperandrogenic women: a prospective study
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Objective To prospectively establish the specificity, sensitivity, and positive predictive value (PPV) of a basal 17-hydroxyprogesterone (17-HP) level for the screening of 21-hydroxylase-deficient nonclassic adrenal hyperplasia (NCAH) among hyperandrogenic women.Design Prospective observational trial.Setting Tertiary care academic medical centers.Patient(s) Eight healthy controls, 20 patients with NCAH, and 284 consecutively seen patients with hyperandrogenism.Intervention(s) All controls and patients with NCAH, and select patients with hyperandrogenism, underwent acute ACTH (1-24) stimulation.Main outcome measure(s) Specificity was determined by measuring 17-HP every other day during one menstrual cycle in 8 healthy women with normal ovulation (107 samples). Sensitivity was determined by measuring 17-HP between 7 and 9 A.M. and 3 and 5 P.M. on the same day in 20 patients with genetically confirmed NCAH. The PPV was determined by prospectively measuring 17-HP in 284 consecutively seen hyperandrogenic women at their initial evaluation. The diagnosis of NCAH was established by a stimulated 17-HP level of >10 ng/mL.Result(s) Among controls, 17-HP levels of <2, <3, and <4 ng/mL all had a specificity of 100% when obtained in the follicular phase; when obtained in the luteal phase, they had specificities of 53%, 82%, and 82%, respectively. Among patients with NCAH, 17-HP levels of >2, >3, and >4 ng/mL had sensitivities of 100%, 90%, and 90%, respectively, for the detection of the disorder when obtained in the morning, and sensitivities of 95%, 90%, and 85%, respectively, when obtained in the afternoon. Among the 284 consecutively seen hyperandrogenic women, the PPVs of the first and second 17-HP levels were 7.3% and 19% for a cutoff level of >2 ng/mL, 13% and 43% for a cutoff level of >3 ng/mL, and 33% and 40% for a cutoff level of >4 ng/mL, respectively.Conclusion(s) A basal 17-HP level is a useful screening tool for NCAH. A cutoff level of 4 ng/mL has maximum specificity and PPV, with little loss in sensitivity if testing is performed in the morning and during the follicular phase. However, a lower cutoff level (e.g., 2 or 3 ng/mL) is preferable if testing is performed at odd hours of the day, as is common in many practices, and maximum sensitivity is desired.
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In nonclassical forms, 17-OHP may be only mildly elevated, often requiring ACTH stimulation for confirmation.
“In NC forms, 17-OHP may be only mildly elevated, often requiring ACTH stimulation for confirmation (8).”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [8]
The most frequent differential diagnosis is between polycystic ovary syndrome and nonclassic forms of congenital adrenal hyperplasia because the phenotypic features are very similar.
“The most frequent differential diagnosis is between PCOS and nonclassic forms of congenital adrenal hyperplasia (NCAH) because the phenotypic features are very similar [97,98]”
From The Diagnosis of Polycystic Ovary Syndrome during Adolescence (2015) · cites this paper as [98]
The discrepancy between this study and studies suggesting baseline 17-OHP above 2 ng/ml as a predictor may be due to the limited number of affected individuals in those studies, which may have underestimated the percentage below the threshold.
“The discrepancy between the results of this study and those suggesting baseline 17-OHP values O2 ng/ml (O6 nmol/l) as predictor of the disease may rely on the limited number of affected individuals analyzed in the latter studies (10,22), that might have underestimated the percentage of patients with values below the threshold.”
From Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche (2011) · cites this paper as [10]
Cites
Hennekens, C. H., Buring, J. E., & Mayrent, S. L. (1987) · Medical Entomology and Zoology · Cited by 2,319 · see citing works
(1988) · Annals of Internal Medicine · doi:10.7326/0003-4819-108-2-316_4 · Cited by 1,938 · see citing works
Ostle, B. (1969) · Cited by 1,089 · see citing works
Hirsutism: Implications, etiology, and management
Hatch, R., Rosenfield, R. L., Kim, M. H., & Tredway, D. R. (1981) · American Journal of Obstetrics and Gynecology · doi:10.1016/0002-9378(81)90746-8 · Cited by 1,013 · 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
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 · see citing works
Steroid-Protein Interaction with Particular Reference to Testosterone Binding by Human Serum
Pearlman, W. H., & Crépy, O. (1967) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)81446-1 · Cited by 328 · see citing works
Clinical review 56: Nonclassic adrenal hyperplasia: current concepts
Azziz, R., Dewailly, D., & Owerbach, D. (1994) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.78.4.8157702 · Cited by 275 · see citing works
Self-citationPANG, S., LERNER, A. J., STONER, E., LEVINE, L. S., OBERFIELD, S. E., ENGEL, I., & NEW, M. I. (1985) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-60-3-428 · Cited by 238 · 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
21-Hydroxylase Deficiency in Female Hyperandrogenism: Screening and Diagnosis
Azziz, R., & Zacur, H. A. (1989) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-69-3-577 · Cited by 173 · see citing works
Self-citationPlasma levels of progesterone after vaginal, rectal, or intramuscular administration of progesterone
Nillius, S. J., & Johansson, E. D. B. (1971) · American Journal of Obstetrics and Gynecology · doi:10.1016/0002-9378(71)90686-7 · Cited by 151 · see citing works
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 · see citing works
Self-citationCyproterone Acetate<i>Versus</i>Hydrocortisone Treatment in Late-Onset Adrenal Hyperplasia
SPRITZER, P., BILLAUD, L., THALABARD, J.-C., BIRMAN, P., MOWSZOWICZ, I., RAUX-DEMAY, M.-C., CLAIR, F., KUTTENN, F., & MAUVAIS-JARVIS, P. (1990) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-70-3-642 · Cited by 146 · 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
Boots, L. R., Potter, S., Potter, H. D., & Azziz, R. (1998) · Fertility and Sterility · doi:10.1016/s0015-0282(97)00464-0 · Cited by 136 · see citing works
Self-citationSerum Steroid Levels During the Menstrual Cycle in a Bilaterally Adrenalectomized Woman
Abraham, G. E., & Chakmakjian, Z. H. (1973) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-37-4-581 · Cited by 134 · see citing works
Secondary Biosynthetic Defects in Women with Late-Onset Congenital Adrenal Hyperplasia
Eldar‐Geva, T., Hurwitz, A., Vecsei, P., Palti, Z., Milwidsky, A., & Rösler, A. (1990) · New England Journal of Medicine · doi:10.1056/nejm199009273231302 · Cited by 126 · see citing works
West, C. D., Mahajan, D. K., Chavré, V. J., Nabors, C. J., & Tyler, F. H. (1973) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-36-6-1230 · Cited by 116 · see citing works
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
Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency
Owerbach, D., Sherman, L., Ballard, A. L., & Azziz, R. (1992) · Molecular Endocrinology · doi:10.1210/mend.6.8.1406699 · Cited by 91 · see citing works
Self-citationFIET, J., GUEUX, B., GOURMELEN, M., KUTTENN, F., VEXIAU, P., COUILLIN, P., PHAM-HUU-TRUNG, M.-T., VILLETTE, J.-M., RAUX-DEMAY, M., GALONS, H., et al. (1988) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-66-4-659 · Cited by 90 · see citing works
Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism
Knochenhauer, E. S., Cortet‐Rudelli, C., Cunnigham, R. D., Conway-Myers, B. A., Dewailly, D., & Azziz, R. (1997) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.82.2.3759 · Cited by 80 · see citing works
Self-citationGutai, J. P., Meyer, W. J., Kowarski, A. A., & Migeon, C. J. (1977) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-44-1-116 · Cited by 80 · see citing works
Levin, J. H., Carmina, E., & Løbo, R. A. (1991) · Fertility and Sterility · doi:10.1016/s0015-0282(16)54592-0 · Cited by 60 · see citing works
Azziz, R., Bradley, E. L., Huth, J., Boots, L. R., Parker, C. R., & Zacur, H. A. (1990) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-70-5-1273 · Cited by 55 · see citing works
Self-citation3β-Hydroxysteroid dehydrogenase deficiency in hyperandrogenism
Azziz, R., Bradley, E. L., Potter, H. D., & Boots, L. R. (1993) · American Journal of Obstetrics and Gynecology · doi:10.1016/s0002-9378(12)90840-6 · Cited by 53 · see citing works
Self-citationRole of the Ovary in the Adrenal Androgen Excess of Hyperandrogenic Women
Azziz, R., Rittmaster, R. S., Fox, L. M., Bradley, E. L., Potter, H. D., & Boots, L. R. (1998) · Fertility and Sterility · doi:10.1016/s0015-0282(98)00033-8 · Cited by 42 · see citing works
Self-citationBenjamin, F., Deutsch, S., Saperstein, H., & SELTZER, V. L. (1986) · Fertility and Sterility · doi:10.1016/s0015-0282(16)49514-2 · Cited by 39 · see citing works
Cobin, R. H., Futterweit, W., Fiedler, R. P., & Thornton, J. C. (1985) · Fertility and Sterility · doi:10.1016/s0015-0282(16)48741-8 · Cited by 36 · see citing works
MCLAUGHLIN, B., Barrett, P. H. R., FINCH, T., & Devlin, J. G. (1990) · Clinical Endocrinology · doi:10.1111/j.1365-2265.1990.tb03750.x · Cited by 27 · see citing works
Nonclassic adrenal hyperplasia
Moran, C. (2006) · Fertility and Sterility · doi:10.1016/j.fertnstert.2006.03.004 · Cited by 20 · see citing works
The 21-Hydroxylase-Deficient Adrenal Hyperplasias: More Than ACTH Oversecretion
Azziz, R., & Slayden, S. (1996) · Journal of the Society for Gynecologic Investigation · doi:10.1016/s1071-5576(96)00044-5 · Cited by 19 · see citing works
Self-citationLate‐onset congenital adrenal hyperplasia in women with hirsutism
Arnaout, M. A. (1992) · European Journal of Clinical Investigation · doi:10.1111/j.1365-2362.1992.tb01425.x · Cited by 19 · see citing works
Late-Onset Adrenal Hyperplasia in North Indian Hirsute Women
Mithal, A., Ammini, A. C., Godbole, M. M., Khurana, M., Raj, D. H., Karmarkar, M. G., & Ahuja, M. M. S. (2008) · Hormone Research · doi:10.1159/000181016 · Cited by 15 · see citing works
Anttila, L., Koskinen, P. J., Erkkola, R., Irjala, K. M. A., & Ruutiainen, K. (1994) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.3109/00016349409013457 · Cited by 15 · see citing works
Innanen, V. T., & Vale, J. M. (1990) · Journal of Clinical Pathology · doi:10.1136/jcp.43.6.493 · Cited by 11 · see citing works
Prevalence of late-onset adrenal hyperplasia in postmenarchal hirsutism
Motta, P., Catania, A. P., Airaghi, L., Mangone, I., CANTALAMESSA, L., & Zanussi, C. (1988) · Journal of Endocrinological Investigation · doi:10.1007/bf03350213 · Cited by 7 · see citing works
Screening for late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Khandekar, S., Lata, V., & Dash, R. J. (1990) · PubMed · Cited by 6 · see citing works
Knochenhauer, E. S., Decanter, C., Cortet‐Rudelli, C., Weil, J., Waggoner, W., Conway-Myers, B. A., Dewailly, D., & Azziz, R. (1997) · Fertility and Sterility · doi:10.1016/s0015-0282(97)90710-x · Cited by 2 · see citing works
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(2004) · Fertility and Sterility · doi:10.1016/j.fertnstert.2003.10.004 · Cited by 9,050 · see citing works
The Diagnosis of Polycystic Ovary Syndrome during Adolescence
Witchel, S. F., Oberfield, S., Rosenfield, R. L., Codner, E., Bonny, A., Ibáñez, L., Pena, A., Horikawa, R., Gomez-Lobo, V., Joel, D., et al. (2015) · Hormone Research in Paediatrics · doi:10.1159/000375530 · Cited by 3,113 · see citing works
The Prevalence and Features of the Polycystic Ovary Syndrome in an Unselected Population
Azziz, R., Woods, K. S., Reyna, R., Key, T. J., Knochenhauer, E. S., & Yıldız, B. O. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-032046 · Cited by 2,715 · see citing works
Self-citationAzziz, R., Carmina, E., Dewailly, D., Diamanti-Kandarakis, E., Escobar-Morreale, H. F., Futterweit, W., Janssen, O. E., Legro, R. S., Norman, R. J., Taylor, A. E., et al. (2009) · Fertility and Sterility · doi:10.1016/j.fertnstert.2008.06.035 · Cited by 2,132 · see citing works
Self-citationAzziz, R., Carmina, E., Chen, Z., Dunaif, A., Laven, J. S. E., Legro, R. S., Lizneva, D., Natterson-Horowtiz, B., Teede, H. J., & Yildiz, B. O. (2016) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2016.57 · Cited by 2,005 · see citing works
Self-citationPolycystic ovary syndrome: etiology, pathogenesis and diagnosis
Goodarzi, M. O., Dumesic, D. A., Chazenbalk, G., & Azziz, R. (2011) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2010.217 · Cited by 1,488 · see citing works
Self-citationSpeiser, 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-citationAsunción, M., Calvo, R. M., Millán, J. L. S., Sancho, J., Ávila, S., & Escobar-Morreale, H. F. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.7.6682 · Cited by 1,328 · see citing works
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
Androgen Excess in Women: Experience with Over 1000 Consecutive Patients
Azziz, R., Sanchez, L. A., Knochenhauer, E. S., Moran, C., Lazenby, J., Stephens, K. C., Taylor, K., & Boots, L. R. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-031122 · Cited by 1,132 · see citing works
Self-citationAsuncion, M. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.85.7.2434 · Cited by 791 · see citing works
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 · see citing works
Congenital adrenal hyperplasia.
Merke, D. P., & Bornstein, S. R. (2005) · The Lancet · doi:10.1016/s0140-6736(05)66736-0 · Cited by 628 · see citing works
DeUgarte, C. M., Bartolucci, A. A., & Azziz, R. (2005) · Fertility and Sterility · doi:10.1016/j.fertnstert.2004.11.070 · Cited by 589 · see citing works
Self-citationAzziz, R. (2018) · Obstetrics & Gynecology · doi:10.1097/aog.0000000000002698 · Cited by 573 · see citing works
Self-citationAzziz, R., Ehrmann, D. A., Legro, R. S., Whitcomb, R. W., Hanley, R. M., Fereshetian, A. G., O’Keefe, M., & Ghazzi, M. N. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.4.7375 · Cited by 537 · see citing works
Self-citationAzziz, R., Marin, C., Hoq, L., Badamgarav, E., & Song, P. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-0628 · Cited by 537 · see citing works
Self-citationEscobar-Morreale, H. F., Carmina, E., Dewailly, D., Gambineri, A., Kelestimur, F., Moghetti, P., Pugeat, M., Qiao, J., Wijeyaratne, C. N., Witchel, S. F., et al. (2012) · Human Reproduction Update · doi:10.1093/humupd/dmr042 · Cited by 494 · see citing works
Self-citationDiagnosis of Polycystic Ovarian Syndrome: The Rotterdam Criteria Are Premature
Azziz, R. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-2153 · Cited by 434 · see citing works
Self-citationImpact of Obesity on the Risk for Polycystic Ovary Syndrome
Yildiz, B. O., Knochenhauer, E. S., & Azziz, R. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-1834 · Cited by 401 · see citing works
Self-citationEscobar-Morreale, H. F., Botella-Carretero, J. I., Álvarez‐Blasco, F., Sancho, J., & Millán, J. L. S. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-1490 · Cited by 389 · see citing works
Definitions, prevalence and symptoms of polycystic ovaries and polycystic ovary syndrome
Hart, R., Hickey, M., & Franks, S. (2004) · Best Practice & Research Clinical Obstetrics & Gynaecology · doi:10.1016/j.bpobgyn.2004.05.001 · Cited by 358 · see citing works
Prevalence and Characteristics of the Polycystic Ovary Syndrome in Overweight and Obese Women
Álvarez‐Blasco, F., Botella-Carretero, J. I., Millán, J. L. S., & Escobar-Morreale, H. F. (2006) · Archives of Internal Medicine · doi:10.1001/archinte.166.19.2081 · Cited by 348 · see citing works
Speiser, P., Arlt, W., Rj, A., Baskin, L., Conway, G. S., Merke, D. P., Meyer‐Bahlburg, H. F. L., Miller, W. L., Murad, M. H., Oberfield, S., et al. (2019) · Yearbook of pediatric endocrinology · doi:10.1530/ey.16.8.5 · Cited by 301 · see citing works
Chang, W. Y., Knochenhauer, E. S., Bartolucci, A. A., & Azziz, R. (2005) · Fertility and Sterility · doi:10.1016/j.fertnstert.2005.01.096 · Cited by 284 · see citing works
Self-citationWelt, C. K., Gudmundsson, J., Arason, G., Adams, J., Pálsdottir, H. S., Gudlaugsdottir, G. J., Ingadóttir, G., & Crowley, W. F. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-1327 · Cited by 260 · see citing works
Azziz, R., Carmina, E., & Sawaya, M. E. (2000) · Endocrine Reviews · doi:10.1210/er.21.4.347 · Cited by 249 · see citing works
Self-citationThe evaluation and management of hirsutism*1
Azziz, R. (2003) · Obstetrics and Gynecology · doi:10.1016/s0029-7844(02)02725-4 · Cited by 247 · see citing works
Self-citationPrevalence of adrenal androgen excess in patients with the polycystic ovary syndrome (PCOS)
Kumar, A., Woods, K. S., Bartolucci, A. A., & Azziz, R. (2005) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2005.02256.x · Cited by 238 · see citing works
Self-citationACOG Practice Bulletin No. 194: polycystic ovary syndrome
(2018) · Obstetrics & Gynecology · doi:10.1097/aog.0000000000002656 · Cited by 231 · see citing works
Carmina, E., Dewailly, D., Escobar-Morreale, H. F., Keleştimur, F., Morán, C., Oberfield, S. E., Witchel, S. F., & Azziz, R. (2017) · Human Reproduction Update · doi:10.1093/humupd/dmx014 · Cited by 202 · see citing works
Self-citationReferral Bias in Defining the Phenotype and Prevalence of Obesity in Polycystic Ovary Syndrome
Ezeh, U., Yildiz, B. O., & Azziz, R. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-1295 · Cited by 193 · see citing works
Self-citationMoran, C., Azziz, R., Carmina, E., Dewailly, D., Fruzzetti, F., Ibañez, L., Knochenhauer, E. S., Marcondes, J. A. M., Mendonca, B. B., Pignatelli, D., et al. (2000) · American Journal of Obstetrics and Gynecology · doi:10.1067/mob.2000.108020 · Cited by 185 · see citing works
Self-citationBasic Infertility Including Polycystic Ovary Syndrome
Brassard, M., Ainmelk, Y., & Baillargeon, J. (2008) · Medical Clinics of North America · doi:10.1016/j.mcna.2008.04.008 · Cited by 181 · 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-citationRole of Diet in the Treatment of Polycystic Ovary Syndrome
Douglas, C. C., Gower, B. A., Darnell, B. E., Ovalle, F., Oster, R. A., & Azziz, R. (2006) · Fertility and Sterility · doi:10.1016/j.fertnstert.2005.08.045 · Cited by 170 · see citing works
Self-citationNordenström, A., & Falhammar, H. (2019) · European Journal of Endocrinology · doi:10.1530/eje-18-0712 · Cited by 158 · see citing works
Guzick, D. S. (2004) · Obstetrics and Gynecology · doi:10.1097/01.aog.0000104485.44999.c6 · Cited by 153 · see citing works
Merke, D. P., Bornstein, S. R., Avila, N. A., & Chrousos, G. P. (2002) · Annals of Internal Medicine · doi:10.7326/0003-4819-136-4-200202190-00012 · Cited by 147 · see citing works
Congenital adrenal hyperplasia.
Witchel, S., & Azziz, R. (2011) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2010.10.001 · Cited by 50 · see citing works
Self-citationArmengaud, J.-B., Charkaluk, M.-L., Trivin, C., Tardy, V., Bréart, G., Brauner, R., & Chalumeau, M. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-0314 · Cited by 135 · see citing works
Falhammar, H., & Nordenström, A. (2015) · Endocrine · doi:10.1007/s12020-015-0656-0 · Cited by 127 · see citing works
Welt, C. K., Arason, G., Gudmundsson, J., Adams, J., Pálsdottir, H. S., Gudlaugsdottir, G. J., Ingadóttir, G., & Crowley, W. F. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-1191 · Cited by 127 · see citing works
Clinical and biochemical characteristics of polycystic ovary syndrome in Korean women
Chae, S. J., Kim, J. J., Choi, Y. M., Hwang, K. R., Jee, B. C., Ku, S., Suh, C. S., Kim, S. H., Kim, J. G., & Moon, S. Y. (2008) · Human Reproduction · doi:10.1093/humrep/den239 · Cited by 127 · see citing works
Pall, M., Azziz, R., Beires, J., & Pignatelli, D. (2010) · Fertility and Sterility · doi:10.1016/j.fertnstert.2009.06.025 · Cited by 123 · see citing works
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Trivax, B., & Azziz, R. (2007) · Clinical Obstetrics & Gynecology · doi:10.1097/grf.0b013e31802f351b · Cited by 120 · see citing works
Self-citationEscobar-Morreale, H. F., Roldán, B., Barrio, R., Alonso, M., Sancho, J., de la Calle, H., & García‐Robles, R. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.11.6931 · Cited by 113 · see citing works
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de Medeiros, S. F., Rodgers, R. J., & Norman, R. J. (2021) · Human Reproduction Update · doi:10.1093/humupd/dmab004 · Cited by 107 · see citing works
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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
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 · see citing works
Self-citationSánchón, R., Gambineri, A., Alpañés, M., Martínez-García, M. Á., Pasquali, R., & Escobar-Morreale, H. F. (2012) · Human Reproduction · doi:10.1093/humrep/des028 · Cited by 89 · see citing works
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Cussen, L., McDonnell, T., Bennett, G., Thompson, C. J., Sherlock, M., & O’Reilly, M. (2022) · Clinical Endocrinology · doi:10.1111/cen.14710 · Cited by 92 · see citing works
The Physiology and Pathology of the Female Reproductive Axis
Bulun, S. E., Adashi, E. Y., & Bulun, S. E. (2007) · Time to knit · doi:10.1016/b978-1-4160-2911-3.50018-2 · Cited by 84 · see citing works
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Trapp, C. M., & Oberfield, S. E. (2011) · Steroids · doi:10.1016/j.steroids.2011.12.009 · Cited by 81 · 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
Morán, C., Reyna, R., BOOTS, L., & Azziz, R. (2004) · Fertility and Sterility · doi:10.1016/j.fertnstert.2003.07.008 · Cited by 72 · see citing works
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Nielsen, S. E., Ahmed, I., & Cahill, L. F. (2013) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2013.07.015 · Cited by 68 · see citing works
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Speiser, P. (2008) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-008-9097-x · Cited by 62 · see citing works
Evidence-based approach to cutaneous hyperandrogenism in women
Schmidt, T. H., & Shinkai, K. (2015) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2015.05.026 · Cited by 60 · see citing works
Polycystic Ovary Syndrome in the Adolescent
Pfeifer, S. M., & Kives, S. L. (2009) · Obstetrics and Gynecology Clinics of North America · doi:10.1016/j.ogc.2008.12.004 · Cited by 60 · see citing works
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Honour, J. W. (2014) · Annals of Clinical Biochemistry International Journal of Laboratory Medicine · doi:10.1177/0004563214529748 · Cited by 62 · see citing works
Legro, R. S., Azziz, R., Ehrmann, D. A., Fereshetian, A. G., O’Keefe, M., & Ghazzi, M. N. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-030044 · Cited by 60 · see citing works
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Brinca, A. T., Ramalhinho, A. C., Sousa, Â., Oliani, A. H., Breitenfeld, L., Passarinha, L. A., & Gallardo, E. (2022) · Biomedicines · doi:10.3390/biomedicines10061254 · Cited by 63 · see citing works
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Self-citationWeerakiet, S., Bunnag, P., Phakdeekitcharoen, B., Wansumrith, S., Chanprasertyothin, S., Jultanmas, R., & Thakkinstian, A. (2007) · Gynecological Endocrinology · doi:10.1080/09513590701214158 · Cited by 59 · see citing works
Livadas, S., & Bothou, C. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00366 · Cited by 57 · see citing works
Diagnostic Criteria for Polycystic Ovarian Syndrome
Broekmans, F. J., & Fauser, B. C. J. M. (2006) · Endocrine · doi:10.1385/endo:30:1:3 · Cited by 56 · see citing works
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Geisthövel, F., & Rabe, T. (2007) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)60902-9 · Cited by 56 · see citing works
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Non polycystic ovary syndrome–related endocrine disorders associated with hirsutism
Ünlühızarcı, K., Kaltsas, G., & Keleştimur, F. (2011) · European Journal of Clinical Investigation · doi:10.1111/j.1365-2362.2011.02550.x · Cited by 52 · see citing works
Bachega, T. A. S. S., Brenlha, E. M. L., Billerbeck, A. E. C., Marcondes, J. A. M., Madureira, G., Arnhold, I. J. P., & Mendonca, B. B. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.2.8247 · Cited by 49 · see citing works
Mazza, A., Fruci, B., Guzzi, P. H., D'Orrico, B., Malaguarnera, R., Veltri, P., Fava, A., & Belfiore, A. (2013) · Nutrition Metabolism and Cardiovascular Diseases · doi:10.1016/j.numecd.2013.04.016 · Cited by 50 · see citing works
Martínez-García, M. Á., Gambineri, A., Alpañés, M., Sánchón, R., Pasquali, R., & Escobar-Morreale, H. F. (2012) · Human Reproduction · doi:10.1093/humrep/des335 · Cited by 50 · see citing works
Ezeh, U. I., Ezeh, C., Pisarska, M. D., & Azziz, R. (2021) · Fertility and Sterility · doi:10.1016/j.fertnstert.2020.12.015 · Cited by 50 · see citing works
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Admoni, O., Israel, S., Lavi, I., Gur, M., & Tenenbaum‐Rakover, Y. (2006) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2006.02521.x · Cited by 52 · see citing works
Pau, C. T., Keefe, C. C., Duran, J. M., & Welt, C. K. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-4021 · Cited by 50 · see citing works
Polycystic ovarian syndrome: clinical and biological diagnosis
Bachelot, A. (2016) · Annales de biologie clinique · doi:10.1684/abc.2016.1184 · Cited by 49 · see citing works
Androgens in Health and Disease
Bagatell, C. J., & Bremner, W. J. (2003) · Humana Press eBooks · doi:10.1385/1592593887 · Cited by 55 · see citing works
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Farah-Eways, L., Reyna, R., Knochenhauer, E. S., Bartolucci, A. A., & Azziz, R. (2004) · Fertility and Sterility · doi:10.1016/j.fertnstert.2003.05.008 · Cited by 45 · see citing works
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Markou, Α., Androulakis, I. I., Mourmouris, C. N., Tsikkini, A., Samara, C., Sougioultzis, S., Piaditis, G. P., & Kaltsas, G. (2009) · Fertility and Sterility · doi:10.1016/j.fertnstert.2008.12.008 · Cited by 45 · see citing works
Speiser, P., 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) · International Journal of Pediatric Endocrinology · doi:10.1155/2010/494173 · Cited by 52 · see citing works
Self-citationHirsutism in Saudi females of reproductive age : A hospital-based study
Al-Ruhaily, A. D., Malabu, U. H., & Sulimani, R. A. (2008) · Annals of Saudi Medicine · doi:10.5144/0256-4947.2008.28 · Cited by 42 · see citing works
Nonclassic congenital adrenal hyperplasia
Witchel, S. F. (2012) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0b013e3283534db2 · Cited by 42 · see citing works
Ghizzoni, L., Cappa, M., Vottero, A., Ubertini, G., Carta, D., Di Iorgi, N., Gasco, V., Marchesi, M., Raggi, V., Ibba, A., et al. (2011) · European Journal of Endocrinology · doi:10.1530/eje-11-0119 · Cited by 41 · see citing works
Non-Classical Congenital Adrenal Hyperplasia in Childhood
Kurtoğlu, S., & Hatipoğlu, N. (2016) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.3378 · Cited by 42 · see citing works
Physiology and Pathology of the Female Reproductive Axis
Bulun, S. E. (2011) · Elsevier eBooks · doi:10.1016/b978-1-4377-0324-5.00017-1 · Cited by 39 · see citing works
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - management in adults.
Ambroziak, U., Bednarczuk, T., Ginalska-Malinowska, M., Małunowicz, E., Grzechocińska, B., Kamiński, P., Bablok, L., Przedlacki, J., & Bar‐Andziak, E. (2010) · PubMed · Cited by 38 · see citing works
Coppus, S. F. P. J., van der Veen, F., Bossuyt, P. M., & Mol, B. W. (2006) · Fertility and Sterility · doi:10.1016/j.fertnstert.2006.03.050 · Cited by 37 · see citing works
Comparison of two isometric handgrip protocols on sympathetic arousal in women
Nielsen, S. E., & Mather, M. (2015) · Physiology & Behavior · doi:10.1016/j.physbeh.2015.01.031 · Cited by 37 · see citing works
The Role Of The Adrenal Cortex In Polycystic Ovary Syndrome
Morán, C., & Azziz, R. (2001) · Obstetrics and Gynecology Clinics of North America · doi:10.1016/s0889-8545(05)70185-6 · Cited by 36 · see citing works
Self-citationPrevalence of nonclassic adrenal hyperplasia (NCAH) in hyperandrogenic women
Fanta, M., Cibula, D., & Vrbíková, J. (2008) · Gynecological Endocrinology · doi:10.1080/09513590801911992 · Cited by 34 · see citing works
Congenital Adrenal Hyperplasia
Merke, D. P., & Kabbani, M. (2001) · Pediatric Drugs · doi:10.2165/00128072-200103080-00005 · Cited by 37 · see citing works
- Authors
- Azziz, R., Hincapie, L. A., Knochenhauer, E. S., Dewailly, D., Fox, L., & Boots, L. R.
- Affiliations
- Centre Hospitalier Universitaire de Lille (FR)
- Corresponding author
- Azziz, Ricardo
- Venue
- Fertility and Sterility
- Publisher
- Elsevier BV
- Published
- 1999-11
- Volume
- 72
- Issue
- 5
- Pages
- 915-925
- ISSN
- 0015-0282 (ISSN-L)
- OpenAlex
- W2146453639
- Cited by
- 244
- References
- 46
- Citations by year
- 2026: 3 · 2025: 6 · 2024: 5 · 2023: 4 · 2022: 9 · 2021: 8 · 2020: 5 · 2019: 10 · 2018: 7 · 2017: 4 · 2016: 12 · 2015: 18 · 2014: 7 · 2013: 9 · 2012: 6
- FWCI
- 2.07
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Fertility and Sterility (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD029364, R01-HD29364)
- 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
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Keywords
- 21-hydroxylase deficiency, hyperandrogenism, 17-hydroxyprogesterone, screening, diagnostic accuracy, ACTH stimulation test, menstrual cycle phases, luteal phase, positive predictive value, sensitivity and specificity, ovulatory women
- MeSH terms
- Adrenal Glands, Adrenal Hyperplasia, Congenital, Basal Metabolism, Female, Humans, Mass Screening, Predictive Value of Tests, Prospective Studies, Sensitivity and Specificity, Case-Control Studies, 17-alpha-Hydroxyprogesterone
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