Genotyping steroid 21-hydroxylase deficiency: hormonal reference data

Microdroplet Assay of Human Serum Cytotoxins

Terasaki, P. I., & McClelland, J. D. (1964) · Nature · doi:10.1038/204998b0 · Cited by 2,072

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

Microfilter paper method for 17α-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia

PANG, S., HOTCHKISS, J., DRASH, A. L., LEVINE, L. S., & NEW, M. I. (1977) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-45-5-1003 · Cited by 293

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

Genetic Mapping of the 21-Hydroxylase-Deficiency Gene within the HLA Linkage Group

Levine, L. S., ZACHMANN, M., New, M. I., Prader, A., Pollack, M. S., O'Neill, G. J., Yang, S. Y., Oberfield, S. E., & Dupont, B. (1978) · New England Journal of Medicine · doi:10.1056/nejm197810262991702 · Cited by 202

Late-Onset 21-Hydroxylase Deficiency Mimicking Idiopathic Hirsutism or Polycystic Ovarian Disease: An Allelic Variant of Congenital Virilizing Adrenal Hyperplasia with a Milder Enzymatic Defect

CHROUSOS, G. P., LORIAUX, D. L., MANN, D. L., & CUTLER, G. B. (1982) · Annals of Internal Medicine · doi:10.7326/0003-4819-96-2-143 · Cited by 158

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

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

Serum Androgens as a Continuing Index of Adequacy of Treatment of Congenital Adrenal Hyperplasia*

KORTH-SCHÜTZ, S., Virdis, R., Saenger, P. H., CHOW, D. M., Levine, L. S., & New, M. I. (1978) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-46-3-452 · Cited by 103

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

Assessment of the one hour adrenocorticotrophic hormone test in the diagnosis of attenuated 21-hydroxylase deficiency.

Innanen, V. T., & Vale, J. M. (1990) · Journal of Clinical Pathology · doi:10.1136/jcp.43.6.493 · Cited by 10

Analytical Support for the Detection and Treatment of Congenital Adrenal Hyperplasia

Wallace, A. M. (1995) · Annals of Clinical Biochemistry International Journal of Laboratory Medicine · doi:10.1177/000456329503200102 · Cited by 11

Pseudogene / functional gene ratio in late-onset 21-hydroxylase-deficient adrenal hyperplasia

Azziz, R., Wells, G., Acton, R. T., & Zacur, H. A. (1990) · American Journal of Obstetrics and Gynecology · doi:10.1016/0002-9378(90)90972-a · Cited by 11

Congenital Adrenal Hyperplasia: Unresolved Issues

Yau, M., Khattab, A., Poppas, D. P., Ghizzoni, L., & New, M. I. (2016) · Frontiers of hormone research · doi:10.1159/000443919 · Cited by 11

Late-onset 21-hydroxylase deficiency: Reliable diagnosis by steroid analysis of random urine collections

Shackleton, C. H. L., IRIAS, J. J., McDonald, C., & Imperato‐McGinley, J. (1986) · Steroids · doi:10.1016/0039-128x(86)90007-3 · Cited by 10

Influence of body mass on the hypothalamic-pituitary-adrenal–axis response to naloxone in patients with polycystic ovary syndrome

Guido, M., Ciampelli, M., Fulghesu, A. M., Pavone, V., Barini, A., Marinis, L. D., Cento, R. M., Caruso, A., & Lanzone, A. (1999) · Fertility and Sterility · doi:10.1016/s0015-0282(98)00470-1 · Cited by 10

Genetics of steroid 21-hydroxylase deficiency

Speiser, P., & New, M. I. (1985) · Trends in Genetics · doi:10.1016/0168-9525(85)90104-0 · Cited by 10

Hiperplasia congênita das supra-renais por deficiência da 21- hidroxilase: altura final de 27 pacientes com a forma clássica

de Lemos‐Marini, S. H. V., Guerra‐Júnior, G., Morcillo, A. M., Baptista, M. T. M., Silva, L. O., & Maciel‐Guerra, A. T. (2005) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302005000600008 · Cited by 10

Impact of long-term naltrexone treatment on growth hormone and insulin secretion in hyperandrogenic and normal obese patients

Villa, P., Fulghesu, A. M., Marinis, L. D., Valle, D. D. L. N. M., Mancini, A., Pavone, V., Caruso, A., & Lanzone, A. (1997) · Metabolism · doi:10.1016/s0026-0495(97)90191-8 · Cited by 10

Effect of feeding on growth hormone response to growth hormone-releasing hormone in polycystic ovarian syndrome: relation with body weight and hyperinsulinism

Villa, P., Soranna, L., Mancini, A., Marinis, L. D., Valle, D. D. L. N. M., Mancuso, S., & Lanzone, A. (2001) · Human Reproduction · doi:10.1093/humrep/16.3.430 · Cited by 9

Transient Central Precocious Puberty in Non-Classic 21-Hydroxylase Deficiency

Speiser, P. (1995) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.1995.8.4.287 · Cited by 10

Polycystic Ovarian Disease and Congenital and Late-onset Adrenal Hyperplasia

New, M. I. (1988) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(18)30402-x · Cited by 10

Molecular Genetics and the Characterization of Steroid 21-Hydroxylase Deficiency

New, M. I. (1986) · Endocrine Research · doi:10.3109/07435808609035453 · Cited by 9

A pilot study of the long-term effects of acipimox in polycystic ovarian syndrome

Ciampelli, M., Leoni, F., Lattanzi, F., Guido, M., Apa, R., & Lanzone, A. (2002) · Human Reproduction · doi:10.1093/humrep/17.3.647 · Cited by 9

Polycystic Ovarian Syndrome

Legro, R. S. (2004) · Elsevier eBooks · doi:10.1016/b978-012444562-8/50030-6 · Cited by 9

Androgen Receptor CAG Repeat Length in Relation to Phenotype Among Females with Nonclassical 21-Hydroxylase Deficiency

Ben‐Shachar, S., Ayalon, I., Reznik‐Wolf, H., Tenenbaum‐Rakover, Y., Zuckerman‐Levin, N., Cohen, O., Lifshitz, A., Fraenkel, M., Toledano, Y., Roash, V., et al. (2014) · Hormone and Metabolic Research · doi:10.1055/s-0034-1389901 · Cited by 9

The role of insulin in ovarian size in patients with the polycystic ovary syndrome

Markussis, V., Goni, M., & Tolis, G. (1994) · Gynecological Endocrinology · doi:10.3109/09513599409072455 · Cited by 9

Adrenal Cortex

Labhart, A. (1986) · Springer eBooks · doi:10.1007/978-3-642-70509-0_7 · Cited by 9

Congenital adrenal hyperplasia

Savage, M. O. (1985) · Clinics in Endocrinology and Metabolism · doi:10.1016/s0300-595x(85)80082-7 · Cited by 9

Estudo comparativo do uso de prednisolona versus acetato de hidrocortisona no tratamento da hiperplasia adrenal congênita por deficiência da 21-hidroxilase forma clássica

Leite, F. M., Longui, C. A., Kochi, C., Faria, C. C., Borghi, M., Calliari, L. E., & Monte, O. (2008) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302008000100014 · Cited by 8

Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency/Direktna Molekularna Dijagnoza CYP21A2 Tačkaste Mutacije Kod Makedonskih I Srpskih Pacijenata Sa Nedostatkom 21-Hidroksilaze

Anastasovska, V., Milenković, T., & Kočova, M. (2014) · Journal of Medical Biochemistry · doi:10.2478/jomb-2014-0048 · Cited by 8

Different Gene Defects in the Salt‐Wasting (SW), Simple Virilizing (SV), and Nonclassical (NC) Types of Congenital Adrenal Hyperplasia (CAH)

Knorr, D., Albert, E. D., BIDLINGMAIER, F., Höller, W., & Scholz, S. (1985) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1985.tb14592.x · Cited by 8

Characteristics and prevalence of non-classical congenital adrenal hyperplasia with a V281l mutation in patients with premature pubarche

Erdeve, Ş. S., Berberoğlu, M., Yurur-Kutlay, N., Şıklar, Z., Hacıhamdioğlu, B., Tükün, A., & Öçal, G. (2011) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2011.354 · Cited by 9

Nonclassic Steroid 21-Hydroxylase Deficiency due to a Homozygous V281L Mutation in CYP21A2 Detected by the Neonatal Mass-Screening Program in Japan

Shinagawa, T., Horikawa, R., Isojima, T., Naiki, Y., Tanaka, T., & Katsumata, N. (2007) · Endocrine Journal · doi:10.1507/endocrj.k07-028 · Cited by 10

Adrenal androgenic response to 2-hour ACTH stimulation test in women with PCOS

Erel, C. T., Senturk, L. M., Oral, E., Çolgar, U., & Ertüngealp, E. (1998) · Gynecological Endocrinology · doi:10.3109/09513599809015594 · Cited by 8

Pituitary-adrenocortical function in abdominal obesity of males: Evidence for decreased 21-hydroxylase activity

Hautanen, A., & Adlercreutz, H. (1996) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/0960-0760(96)00013-1 · Cited by 8

Insulin and GH secretion in adolescent girls with irregular cycles: Polycystic vs multifollicular ovaries

Villa, P., Rossodivita, A. N., Fulghesu, A. M., Cucinelli, F., Barini, A., Apa, R., Belosi, C., & Lanzone, A. (2003) · Journal of Endocrinological Investigation · doi:10.1007/bf03345177 · Cited by 8

Novel Systematics of Nomenclature and Classification of Female Functional Androgenization (Including Polycystic Ovary Syndrome and Non-Classic Congenital Adrenal Hyperplasia)

Geisthövel, F., Wacker, A., Brabant, G. E., Botsch, F., Maechtel, A., Wetzka, B., & Ochsner, A. (2010) · Journal für Kardiologie (Krause & Pachernegg GmbH) · Cited by 8

Hyperandrogenism — What Is Normal?

Rittmaster, R. S. (1992) · New England Journal of Medicine · doi:10.1056/nejm199207163270311 · Cited by 8

Androgen Excess Disorders in Women

Legro, R. S. (2003) · Humana Press eBooks · doi:10.1007/978-1-59259-388-0_7 · Cited by 7

Premature Pubarche: Time to Revise the Diagnostic Approach?

Baronio, F., Marzatico, A., IASIO, R. D., Ortolano, R., Fanolla, A., Radetti, G., Balsamo, A., Pession, A., & Cassio, A. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12062187 · Cited by 7

The impact of genetic steroid disorders on human fertility

Reichman, D., & Rosenwaks, Z. (2016) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2016.04.014 · Cited by 8

The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family

Kočova, M., Anastasovska, V., & Bitovska, I. (2019) · European journal of medical research · doi:10.1186/s40001-019-0379-4 · Cited by 7

Women with Nonclassic Congenital Adrenal Hyperplasia Have Gender, Sexuality, and Quality-Of-Life Features Similar to those of Nonaffected Women

Segev‐Becker, A., Jacobson, R., Stein, R., Eyal, O., Oren, A., Schachter‐Davidov, A., Israeli, G., Lebenthal, Y., & Weintrob, N. (2020) · Endocrine Practice · doi:10.4158/ep-2019-0509 · Cited by 7

Ethinylestradio-Chlormadinone Acetate Combination for the Treatment of Hirsutism and Hormonal Alterations of Normal-Weight Women With Polycystic Ovary Syndrome: Evaluation of the Metabolic Impact

Guido, M., Romualdi, D., Campagna, G., Ricciardi, L., Bompiani, A., & Lanzone, A. (2010) · Reproductive Sciences · doi:10.1177/1933719110371515 · Cited by 7

The immunological detection of a 21-OH deficiency mutation HLA supratype.

Pollack, M. S., Keenan, B. T., Christiansen, F., Cobain, T. J., Dawkins, R. L., & Clayton, G. (1986) · PubMed · Cited by 7

Elevated serum progesterone levels during pituitary suppression may signify adrenal hyperandrogenism

Eldar‐Geva, T., Margalioth, E. J., Brooks, B., Algur, N., Gal, M., Zylber-Haran, E., Bar, I., & Diamant, Y. Z. (1997) · Fertility and Sterility · doi:10.1016/s0015-0282(97)81416-1 · Cited by 7

Congenital adrenal hyperplasia family studies using the short ACTH test

Kreutzmann, D. J., Cowell, C., HOWARD, N. J., SOUZA, M. M. B., & Silink, M. (1989) · Journal of Paediatrics and Child Health · doi:10.1111/j.1440-1754.1989.tb02353.x · Cited by 7

The Incidence of 21α-Hydroxylase Deficiency in Greek Hyperandrogenic Women: Screening and Diagnosis

Trakakis, E., Chryssikopoulos, A., Phocas, I., Sarandakou, A., Rizos, D., & Stavropoulos-Giokas, C. (1998) · Gynecological Endocrinology · doi:10.3109/09513599809024956 · Cited by 7

Congenital Adrenal Hyperplasia in an Elite Female Soccer Player; What Sports Medicine Clinicians Should Know about This?

Angoorani, H., Haratian, Z., & Halabchi, F. (2012) · Asian Journal of Sports Medicine · doi:10.5812/asjsm.34694 · Cited by 7

Hyperandrogenism in Women

Rabe, T., Grunwald, K., & Runnebaum, B. (1997) · Springer eBooks · doi:10.1007/978-3-642-60390-7_15 · Cited by 8

Plasma levels of C19 steroid glucuronides in pre-menopausal women with non-classical congenital adrenal hyperplasia

Whorwood, C. B., Ueshiba, H., & del Balzo, P. (1992) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/0960-0760(92)90030-m · Cited by 7

INFERTILITY

Illions, E. H., Valley, M. T., & Kaunitz, A. M. (1998) · Medical Clinics of North America · doi:10.1016/s0025-7125(05)70607-6 · Cited by 7

Genetics and biochemical variability of variants of 21 hydroxylase deficiency.

Gordon, M. T., Conway, D. I., Anderson, D. C., & Harris, R. (1985) · Journal of Medical Genetics · doi:10.1136/jmg.22.5.354 · Cited by 7

Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals

Lao, Q., Schulman, A., Kulkarni, S., Kollender, S., Bick, D., Moon, A., Burkardt, D. D., & Merke, D. P. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaf546 · Cited by 6

Genotype-Specific Cortisol Reserve in a Cohort of Subjects With Nonclassic Congenital Adrenal Hyperplasia (NCCAH)

Koren, I., Weintrob, N., Kebesch, R., Majdoub, H., Stein, N., Naor, S., & Segev‐Becker, A. (2023) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad546 · Cited by 6

Role of Body Weight in the Onset and the Progression of Idiopathic Premature Pubarche

Cavarzere, P., Mauro, M., Gaudino, R., Micciolo, R., PIACENTINI, G. L., & Antoniazzi, F. (2020) · Hormone Research in Paediatrics · doi:10.1159/000511873 · Cited by 6

Insulin resistance after precocious pubarche: relation to PAI‐1–675 4G/5G polymorphism, and opposing influences of prenatal and postnatal weight gain

López‐Bermejo, A., Casano, P., Petry, C. J., Jaramillo, A. M. A., Rodríguez‐González, F., Dunger, D. B., de Zegher, F., & Ibáñez, L. (2007) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2007.02914.x · Cited by 6

Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?

Cavarzere, P., Mauro, M., Vincenzi, M., Lauriola, S., Teofoli, F., Gaudino, R., Ramaroli, D. A., Micciolo, R., Camilot, M., & Antoniazzi, F. (2018) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/s13052-018-0444-6 · Cited by 6

Five Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency (One with Associated Neuroblastoma) Discovered in Three Generations of One Family

Janjanin, N., Dumić, M., Škrabić, V., Kuŝec, V., Grubić, Z., & Uroić, A. Š. (2006) · Hormone Research in Paediatrics · doi:10.1159/000096420 · Cited by 6

21-Hydroxylase deficiency in Brazil

Bachega, T. A. S. S., Billerbeck, A. E. C., Madureira, G., Marcondes, J. A. M., Longui, C. A., Leite, M. V., Arnhold, I. J. P., & Mendonca, B. B. (2000) · Brazilian Journal of Medical and Biological Research · doi:10.1590/s0100-879x2000001000011 · Cited by 6

Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening

Soardi, F. C., de Lemos‐Marini, S. H. V., Coeli, F. B., Maturana, V. G., da Silva, M. D. B., Bernardi, R. D., Justo, G. Z., & de Mello, M. P. (2008) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302008000800030 · Cited by 5

The Evaluation and Treatment of Hirsute Women

Ünlühızarcı, K., Şahin, Y., & Keleştimur, F. (2005) · Women s Health · doi:10.2217/17455057.1.3.429 · Cited by 5

A rare case of an androgen-producing stromal luteoma of the ovary in a postmenopausal woman, diagnosed by means of selective venous blood sampling

Bogdanou, D., Meyer, G., Stuecker, A.-U., Thalhammer, A., Hansmann, M., & Bojunga, J. (2016) · Gynecological Endocrinology · doi:10.1080/09513590.2016.1183626 · Cited by 5

Basal levels of 17-hydroxyprogesterone can distinguish children with isolated precocious pubarche

Grandone, A., Marzuillo, P., Luongo, C., Toraldo, R., Mariani, M., del Giudice, E. M., & Perrone, L. (2018) · Pediatric Research · doi:10.1038/s41390-018-0096-7 · Cited by 5

Prevalence of nonclassical congenital adrenal hyperplasia among women self‐referred for electrolytic treatment of hirsutism

Killeen, A. A., Hanson, N. Q., Eklund, R., Cairl, C. J., & Eckfeldt, J. H. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320420212 · Cited by 5

HLA Typing of Patients with 21-Hydroxylase Deficiency in Iranian Children with Congenital Adrenal Hyperplasia

Ashtıani, M. T. H., Rabbani, A., Mostafavi, F., Monajemzadeh, M., Kermani, F. R., & Soltaninia, J. (2008) · Biochemical Genetics · doi:10.1007/s10528-008-9186-2 · Cited by 5

Evaluation and Treatment of Hirsutism

Dash, K. (2013) · Apollo Medicine · doi:10.1016/j.apme.2013.05.021 · Cited by 5

Primary Amenorrhea Accompanied by Adrenal Adenoma: Start of Menarche Soon after Tumor Resection.

TAKAHASHI, Y., Ninomiya, J., Horiguchi, J., Shimizu, H., Sato, M., Koibuchi, Y., YOSHIDA, T., Yoshida, M., Takata, D., Odawara, H., et al. (2002) · Internal Medicine · doi:10.2169/internalmedicine.41.972 · Cited by 5

Funktionsteste und Untersuchungsmethoden in der Gynäkologie und Geburtshilfe

Rabe, T., & Runnebaum, B. (1987) · Springer eBooks · doi:10.1007/978-3-642-71568-6_4 · Cited by 5

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

Some characteristics of human adrenal microsomal 21-hydroxylase activity

Gordon, M. T., Andersom, D. C., Mitchell, R. M., & Robertson, W. R. (1985) · Journal of Steroid Biochemistry · doi:10.1016/0022-4731(85)90261-4 · Cited by 5

Italian extended HLA haplotypes in Congenital Adrenal Hyperplasia

Abbal, M., Belvedere, M. C., Livieri, C., Paoli, F. D., Martin, M., Severi, F. M., & Cambon‐Thomsen, A. (1988) · Tissue Antigens · doi:10.1111/j.1399-0039.1988.tb01632.x · Cited by 5

Different dysregulations in adrenal steroid biosynthesis as a prevalent cause of hyperandrogenism in women from southern Italy

Valentino, R., Tommaselli, A. P., Savastano, S., Dorato, M., Rossi, R., & Lombardi, G. (1997) · Fertility and Sterility · doi:10.1016/s0015-0282(97)81508-7 · Cited by 5

Clinical and Genetic Characterization of Nonclassic 21-hydroxylase Deficiency

Speiser, P., New, M. I., & White, P. C. (1989) · Endocrine Research · doi:10.1080/07435808909039100 · Cited by 5

Current Screening Strategies for the Diagnosis of Adrenal Insufficiency in Children

Bowden, S. A. (2023) · Pediatric Health Medicine and Therapeutics · doi:10.2147/phmt.s334576 · Cited by 5

Development of Laboratory Investigations in Disorders of Sex Development

Audı́, L., Camats, N., Fernández‐Cancio, M., & Granada, M. L. (2017) · Sexual Development · doi:10.1159/000479719 · Cited by 4

Classic Congenital Adrenal Hyperplasia

Charmandari, E., Chrousos, G. P., & Merke, D. P. (2005) · Springer eBooks · doi:10.1007/3-540-26861-8_10 · Cited by 4

Comparison between buserelin and dexamethasone testing in the assessment of hirsutism

Re, T., Barbetta, L., Dall’Asta, C., Faglia, G., & Ambrosi, B. (2002) · Journal of Endocrinological Investigation · doi:10.1007/bf03343965 · Cited by 4

Hirsutismo: diagnóstico diferencial

Marcondes, J. A. M. (2006) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302006000600019 · Cited by 4

MANAGEMENT OF CONGENITAL ADRENAL HYPERPLASIA DURING PREGNANCY

Garner, P. R. (1996) · Endocrine Practice · doi:10.4158/2.6.397 · Cited by 4

Evaluation of insulin resistance in Turkish girls with premature pubarche using the homeostasis assessment (HOMA) model

Evliyaoğlu, O., Berberoğlu, M., Adıyaman, P., Aycan, Z., & Öçal, G. (2007) · The Turkish Journal of Pediatrics · doi:10.24953/turkjpediatr.2007.2530 · Cited by 4

Audit of care of patients with congenital adrenal hyperplasia due to 21-Hydroxylase deficiency in a referral hospital in South India.

Bhaskaran, S., Nair, Kumar, H., & Rv, J. (2006) · PubMed · Cited by 4

Funktionsteste und Untersuchungsmethoden in der gynäkologischen Endokrinologie und Fortpflanzungsmedizin

Rabe, T., & Runnebaum, B. (1994) · Springer eBooks · doi:10.1007/978-3-662-07633-0_2 · Cited by 4

Octreotide Effect on Ovarian Morphology in Insulin‐Resistant PCOS Patients Following Six‐Month Decapeptyl Treatment

Goni, M., Markussis, V., & Tolis, G. (1994) · American Journal of Reproductive Immunology · doi:10.1111/j.1600-0897.1994.tb00854.x · Cited by 4

The Effect of Three Menstrual Cycle Phases on Adrenal Hormonal Dynamics and Etiologies of Hirsutism in Five Ethnic/Racial Female Populations

Sakkal-Alkaddour, H., Suriano, M. J., Riddick, L., Chang, Y., Ziai, F., & Pang, S. (1998) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.7.23 · Cited by 4

Transient hyperandrogenemia and its relation to ovulation

Martins, J. M., Carreiras, F., Afonso, A., Falcão, J., & da Costa, J. C. (1998) · Fertility and Sterility · doi:10.1016/s0015-0282(98)00258-1 · Cited by 4

Hyperandrogenism

Hammond, M. G., Talbert, L. M., & Groff, T. R. (1986) · Postgraduate Medicine · doi:10.1080/00325481.1986.11699305 · Cited by 4

17-Hydroxyprogesterone Response to Standard Dose Synacthen Stimulation Test in CYP21A2 Heterozygous Carriers and Non-carriers in Symptomatic and Asymptomatic Groups: Meta-analyses

Polat, S., & Arslan, Y. K. (2022) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.galenos.2021.2021.0184 · Cited by 3

The SGA-ER educational intervention in adolescent health care for Italian physicians: goals, content and instructional design.

Sanctis, V. D., Clemente, S., Gallotta, M. C., Filati, G., Fiscina, B., Marsciani, A., PIACENTINI, G. L., Timoncini, G., Reggiani, L., Zucchini, A., et al. (2012) · PubMed · Cited by 3

Molecular genetic strategy for diagnosis of congenital adrenal hyperplasia in Serbia

Ugrin, M., Milacic, I., Skakić, A., Klaassen, K., Komazec, J., Pavlović, S., & Stojiljković, M. (2017) · Genetika · doi:10.2298/gensr1702457u · Cited by 3

Assessing the risk of having a child with classic 21-hydroxylase deficiency: a new paradigm

Ilany, J., & Cohen, O. (2021) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2021.04.007 · Cited by 3

Comparison of two different radioimmunoassays to measure 17-hydroxyprogesterone during treatment monitoring of children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Kamrath, C., Böhles, H., & Maser‐Gluth, C. (2010) · Clinica Chimica Acta · doi:10.1016/j.cca.2010.10.001 · Cited by 3

ACP Broadsheet No 141: September 1993. Role of endocrine biochemistry laboratories in the investigation of infertility.

Beastall, G. H. (1993) · Journal of Clinical Pathology · doi:10.1136/jcp.46.9.790 · Cited by 3

Avaliação dos critérios diagnósticos hormonais da forma não clássica da deficiência da 21-hidroxilase através do estudo molecular do gene CYP21A2

Correa, F. A., & Bachega, T. A. S. S. (2003) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302003000500017 · Cited by 3

Clinical Evaluation of Polycystic Ovary Syndrome

Taylor, A. E. (2007) · Humana Press eBooks · doi:10.1007/978-1-59745-310-3_31 · Cited by 3

Congenital Adrenal Hypoplasia: A Disorder Frequently Missed

Jurayyan, N. A. M. A., Abdullah, M. A., Herbish, A. S. A., & Abo-Bakr, A. M. (1995) · Annals of Saudi Medicine · doi:10.5144/0256-4947.1995.563 · Cited by 3

Dual Heterozygous Mutations in CYP21A2 and CYP11B1 in a Case of Nonclassic Congenital Adrenal Hyperplasia

Frontera, E. D., Brown, J. J., Ghareebian, H., & Mariash, C. N. (2022) · AACE Clinical Case Reports · doi:10.1016/j.aace.2022.10.003 · Cited by 3

Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

New, M. I., Lekarev, O., Jacob, M., Macdonald, A., Parsa, A. A., & Yuen, T. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-821424-4.00031-9 · Cited by 4

Clinically silent congenital adrenal hyperplasia masquerading as ectopic adrenocorticotropic hormone syndrome

Georgitis, W. J. (1986) · The American Journal of Medicine · doi:10.1016/0002-9343(86)90829-6 · Cited by 3

False Negatives at Neonatal Screening for Congenital Adrenal Hyperplasia in Two Siblings with 21 -Hydroxylase Deficiency.

Shinohara, O., ISHIGURO, H., Shinagawa, T., & Kubota, C. (1998) · Endocrine Journal · doi:10.1507/endocrj.45.427 · Cited by 3

Assessment of the adrenal-ovarian contribution by short-term dexamethasone and ACTH tests in hyperandrogenized patients

Fulghesu, A. M., Lanzone, A., Apa, K., Fortini, A., Caruso, A., & Mancuso, S. (1991) · Gynecological Endocrinology · doi:10.3109/09513599109049940 · Cited by 3

New reliable biochemical marker for screening 21α-hydroxylase deficiency without index person among hirsute women in agreement with HLA-haplotyping

Chryssikopoulos, A., Phocas, I., Sarandakou, A., Trakakis, E., & Rizos, D. (1995) · Journal of Endocrinological Investigation · doi:10.1007/bf03349807 · Cited by 3

Diagnosis and management of congenital adrenal hyperplasia

Speiser, P. (2006) · Expert Review of Endocrinology & Metabolism · doi:10.1586/17446651.1.1.103 · Cited by 3

Effect of the opioid blockade on the feeding-induced growth hormone response to growth hormone-releasing hormone in women with polycystic ovary syndrome

Guido, M., Romualdi, D., Mancini, A., Lattanzi, F., Villa, P., Barini, A., Lanzone, A., & Marinis, L. D. (2002) · Fertility and Sterility · doi:10.1016/s0015-0282(02)04201-2 · Cited by 3

NON CLASSIC 21 HYDROXYLASE DEFICIENT ADRENAL HYPERPLASIA IN PATIENTS WITH ISOLATED PRECOCIOUS PUBARCHE

Moayeri, H., & Rabbani, A. (2003) · Cited by 3

Late onset adrenal hyperplasia: mutation at codon 282 of the functional 21-hydroxylase gene is not ubiquitous

Wells, G., & Azziz, R. (1990) · Fertility and Sterility · doi:10.1016/s0015-0282(16)53939-9 · Cited by 3

The Nonclassic Adrenal Hyperplasias

Dewailly, D., & Azziz, R. (2007) · Humana Press eBooks · doi:10.1007/978-1-59745-179-6_8 · Cited by 3

Hiperplasia suprarrenal congénita: diagnóstico, tratamiento y evolución a largo plazo

Labarta, J. I., Bello, E., Ferrández, A., & Mayayo, E. (2004) · Endocrinología y Nutrición · doi:10.1016/s1575-0922(04)74628-8 · Cited by 2

Congenital Adrenal Hyperplasia

Nimkarn, S., & New, M. I. (2010) · Elsevier eBooks · doi:10.1016/b978-0-12-374430-2.00015-8 · Cited by 2

Studies of the C-21 and C-19 Steroids and HLA Genotyping in Siblings and Parents of Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency*

LORENZEN, F., PANG, S., New, M. I., Pollack, M. S., Oberfield, S. E., Dupont, B., CHOW, D. M., Schneider, B., & Levine, L. S. (1980) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-50-3-572 · Cited by 54

Superior discriminating value of ACTH‐stimulated serum 21‐deoxycortisol in identifying heterozygote carriers for 21‐hydroxylase deficiency

Costa‐Barbosa, F. A., Fernandes, V. D. F. T., Carvalho, V. M., Nakamura, O. H., Moura-Massari, V. O., Bachega, T. A. S. S., Vieira, J. G. H., & Kater, C. E. (2010) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2010.03871.x · Cited by 51

Sweat electrolyte and cystic fibrosis mutation analysis allows early diagnosis in Brazilian children with clinical signs compatible with cystic fibrosis

Rabbi‐Bortolini, E., Bernardino, A. L. F., Lopes, A. L., Ferri, A., Passos‐Bueno, M. R., & Zatz, M. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980401)76:4 · Cited by 6

Genotyping for 21-hydroxylase deficiency: one or two genes?

New, M. I., Kohn, B., Pollack, M. S., PANG, S., Levy, D., RONDANINI, G. F., LORENZEN, F., Lerner, A. J., Dupont, B., & Levine, L. S. (1981) · Pediatric Research · doi:10.1203/00006450-198112000-00140

Adrenal response to adrenocorticotropin hormone and HLA typing of subjects with different degrees of 21-hydroxylase deficiency.

Elias, L. L. K., Voltarelli, J. C., & Moreira, A. C. (1993) · PubMed · Cited by 4