Cited by 628Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

The DOI matches its Crossref record; 136 of the 153 references it cites were found in a registry or an index.

Congenital adrenal hyperplasia.

Merke, Deborah P, Bornstein, Stefan R·2005·The Lancet

Open this paper in CoChat — free account

Abstract

Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency. The severe classic form occurs in one in 15,000 births worldwide, and the mild non-classic form is a common cause of hyperandrogenism. Neonatal screening for CAH and gene-specific prenatal diagnosis are now possible. Standard hormone replacement fails to achieve normal growth and development for many children with CAH, and adults can experience iatrogenic Cushing's syndrome, hyperandrogenism, infertility, or the development of the metabolic syndrome. This Seminar reviews the epidemiology, genetics, pathophysiology, diagnosis, and management of CAH, and provides an overview of clinical challenges and future therapies.

Integrity signals

Registry

Crossref · 10.1016/s0140-6736(05)66736-0

Cites

136 of 136 references verified0 citation errors · 0 not checkable

Statistics

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

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

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

Stress hormones: their interaction and regulation
Axelrod, J., & Reisine, T. D. (1984) · Science · doi:10.1126/science.6143403 · Cited by 1,527
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
A Consensus Statement on Health Care Transitions for Young Adults With Special Health Care Needs
American Academy of Pediatrics, American Academy of Family Physicians, & American College of Physicians-American Society of Internal Medicine (2002) · PEDIATRICS · doi:10.1542/peds.110.s3.1304 · Cited by 894
Dehydroepiandrosterone Replacement in Women with Adrenal Insufficiency
Arlt, W., Callies, F., van Vlijmen, J. C., Koehler, I., Reincke, M., Bidlingmaier, M., Huebler, D., Oettel, M., Ernst, M., Schulte, H. M., et al. (1999) · New England Journal of Medicine · doi:10.1056/nejm199909303411401 · Cited by 644
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
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
Consensus Statement on 21-Hydroxylase Deficiency from The European Society for Paediatric Endocrinology and The Lawson Wilkins Pediatric Endocrine Society
Vogeser, M., Zachoval, R., Felbinger, T. W., Jacob, K., Radetti, G., Bona, G., Corrias, A., Cappa, M., DeSanctis, V., Lauriola, S., et al. (2002) · Hormone Research in Paediatrics · doi:10.1159/000065490 · Cited by 452
Androgen and psychosexual development: Core gender identity, sexual orientation, and recalled childhood gender role behavior in women and men with congenital adrenal hyperplasia (CAH)
Hines, M., Brook, C. G. D., & Conway, G. S. (2004) · The Journal of Sex Research · doi:10.1080/00224490409552215 · Cited by 445
Non-compliance and transfer from paediatric to adult transplant unit
Watson, A. R. (2000) · Pediatric Nephrology · doi:10.1007/s004670050794 · Cited by 428
Environmental influences in the development of neural crest derivatives: glucocorticoids, growth factors, and chromaffin cell plasticity
Doupe, A. J., Landis, S. C., & Patterson, P. (1985) · Journal of Neuroscience · doi:10.1523/jneurosci.05-08-02119.1985 · Cited by 399

Show all 153 references

Research works printed but not linked: 17

Speiser, 1985, High frequency of nonclassical steroid 21-hydroxylase deficiency, Am J Hum Genet, 37, 650
Fitness, 1999, Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia, J Clin Endocrinol Metab, 84, 960
Kawaguchi, 1992, Evolutionary origin of mutations in the primate cytochrome P450c21 gene, Am J Hum Genet, 50, 766
Tajima, 1993, De novo mutation causes steroid 21-hydroxylase deficiency in one family of HLA-identical affected and unaffected siblings, J Clin Endocrinol Metab, 77, 86
Wilson, 1995, Steroid 21 hydroxylase deficiency: genotype may not predict phenotype, J Clin Endocrinol Metab, 80, 2322
Jaaskelainen, 1997, Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population, J Clin Endocrinol Metab, 82, 3293
Knochenhauer, 1997, Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism, J Clin Endocrinol Metab, 82, 479
Speiser, 1992, Insulin insensitivity in adrenal hyperplasia due to nonclassical steroid 21-hydroxylase deficiency, J Clin Endocrinol Metab, 75, 1421
Nordenstrom, 1999, Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21 hydroxylase deficiency, J Clin Endocrinol Metab, 84, 1505
Azziz, 1994, Clinical review 56: nonclassic adrenal hyperplasia: current concepts, J Clin Endocrinol Metab, 78, 810
New, 1988, Growth and final height in classical and nonclassical 21-hydroxylase deficiency, Acta Paediatr Jpn, 30, 79
David, 1994, Final height in 69 patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Arch Pediatr, 1, 363
Jaaskelainen, 2000, Child rate, pregnancy outcome and ovarian function in females with classical 21-hydroxylase deficiency, Acta Obstet Gynecol Scand, 79, 687
Feldman, 1992, Fertility in women with late-onset adrenal hyperplasia due to 21-hydroxylase deficiency, J Clin Endocrinol Metab, 74, 635
Lo, 1999, Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, J Clin Endocrinol Metab, 84, 930
Margolis, 1974, Experimental adenovirus infection of the mouse adrenal gland. I. Light microscopic observations, Am J Pathol, 75, 363
Stauber, 1978, Experimental intraamnionic exposure of bovine fetuses with subgroup 2, type 7 adenovirus, Can J Comp Med, 42, 466

Sorted by citations

Items 201–300 of 628

Development and verification of an endogenous PBPK model to inform hydrocortisone replacement dosing in children and adults with cortisol deficiency
Bonner, J. J., Burt, H. J., Johnson, T. N., Whitaker, M. J., Porter, J. B., & Ross, R. J. M. (2021) · European Journal of Pharmaceutical Sciences · doi:10.1016/j.ejps.2021.105913 · Cited by 21
Transforming growth factor-β (TGF-β) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome
Morissette, R., Merke, D. P., & McDonnell, N. B. (2014) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2013.12.004 · Cited by 21
Self-citation
Manifestations and characteristics of congenital adrenal hyperplasia-associated encephalopathy
Abe, Y., Sakai, T., Okumura, A., Akaboshi, S., Fukuda, M., Haginoya, K., Hamano, S.-I., Hirano, K., Kikuchi, K., Kubota, M., et al. (2016) · Brain and Development · doi:10.1016/j.braindev.2016.01.007 · Cited by 21
A new reconstitutable oral paediatric hydrocortisone solution containing hydroxypropyl-β-cyclodextrin
Orlu, M., Fisco, G., Parmar, D., Gill, H., & Tuleu, C. (2012) · Drug Development and Industrial Pharmacy · doi:10.3109/03639045.2012.696654 · Cited by 20
Hyperandrogénie féminine
Peigné, M., Villers-Capelle, A., Robin, G., & Dewailly, D. (2013) · La Presse Médicale · doi:10.1016/j.lpm.2013.07.016 · Cited by 20
The Adrenal Cortex
Stewart, P. M., & Newell-Price, J. D. C. (2016) · Elsevier eBooks · doi:10.1016/b978-0-323-29738-7.00015-0 · Cited by 24
Newborn screening for congenital adrenal hyperplasia in Cuba: Six years of experience
Reyes, E. C. G., Carvajal, F., Frómeta, A., Arteaga, A. L., Martínez, E. M. C., Espinosa, T., Coto, R., Pérez, P. L., Tejeda, Y., del Río, L., et al. (2013) · Clinica Chimica Acta · doi:10.1016/j.cca.2013.02.020 · Cited by 21
Clinical Course of Patients with Nonclassical 21-hydroxylase Deficiency (21-OHD) Diagnosed in Infancy and Childhood
Kashimada, K., Makoto, O. N. O., ONISHI, T., KOYAMA, S., Toyoura, T., Imai, K., Saisho, S., & Mizutani, S. (2008) · Endocrine Journal · doi:10.1507/endocrj.k07e-057 · Cited by 20
Sexual Function and Depressive Symptoms in Young Women With Nonclassic Congenital Adrenal Hyperplasia
Krysiak, R. G., Drosdzol-Cop, A. B., Skrzypulec‐Plinta, V., & Okopień, B. (2016) · The Journal of Sexual Medicine · doi:10.1016/j.jsxm.2015.11.002 · Cited by 20
24-Hour Blood Pressure Profiles in Children with Congenital Adrenal Hyperplasia on Two Different Hydrocortisone Treatment Regimens
Liivak, K., & Tillmann, V. (2009) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2009.22.6.511 · Cited by 19
Health status of children and young persons with congenital adrenal hyperplasia in the UK (CAH-UK): a cross-sectional multi-centre study
Bacila, I. A., Lawrence, N., Mahdi, S., Alvi, S., Cheetham, T. D., Crowne, E. C., Das, U., Dattani, M., Davies, J. H., Gevers, E. F., et al. (2022) · European Journal of Endocrinology · doi:10.1530/eje-21-1109 · Cited by 21
Does Preoperative Genitography in Congenital Adrenal Hyperplasia Cases Affect Surgical Approach to Feminizing Genitoplasty?
VanderBrink, B. A., Rink, R. C., Cain, M. P., Kaefer, M. A., Meldrum, K. K., Misseri, R., & Karmazyn, B. W. (2010) · The Journal of Urology · doi:10.1016/j.juro.2010.05.082 · Cited by 20
Congenital Adrenal Hyperplasia
Vos, A. A., & Bruinse, H. W. (2010) · Obstetrical & Gynecological Survey · doi:10.1097/ogx.0b013e3181d61046 · Cited by 18
A Male Case of Nonclassical 21-hydroxylase Deficiency First Manifested in His Sixties with Adrenocortical Incidentaloma
Nigawara, T., Kageyama, K., Sakihara, S., Takayasu, S., KAWAHARA, M., Imai, A., Οhyama, C., Usui, T., Sasano, H., & Suda, T. (2008) · Endocrine Journal · doi:10.1507/endocrj.k07-119 · Cited by 16
Endocrine and metabolic interactions in healthy pregnancies and hyperinsulinemic pregnancies affected by polycystic ovary syndrome, diabetes and obesity
Neven, A. C. H., Mousa, A., Boyle, J. A., & Teede, H. J. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.993619 · Cited by 24
Overview of Genetic Defects in Endocrinopathies in the Island of Cyprus; Evidence of a Founder Effect
Shammas, C., Neocleous, V., Toumba, M., Costi, C., Phedonos, A., Efstathiou, E., Kyriakou, A., Phylactou, L. A., & Skordis, N. (2012) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2011.0381 · Cited by 18
Trophoblast Retrieval and Isolation From the Cervix for Noninvasive, First Trimester, Fetal Gender Determination in a Carrier of Congenital Adrenal Hyperplasia
Bolnick, A. D., Fritz, R., Jain, C. V., Kadam, L., Bolnick, J. M., Kilburn, B. A., Singh, M., Diamond, M. P., Drewlo, S., & Armant, D. R. (2016) · Reproductive Sciences · doi:10.1177/1933719116632922 · Cited by 18
How the child’s gender matters for families having a child with congenital adrenal hyperplasia
Fleming, L., Knafl, K., & Van Riper, M. (2017) · Journal of Family Nursing · doi:10.1177/1074840717735499 · Cited by 18
“Gender assignment in these affected females can pose both a medical and family emergency (Merke & Bornstein, 2005; Speiser et al., 2010).”
Background
Voice changes in reproductive disorders, thyroid disorders and diabetes: a review
Stogowska, E., Kamiński, K. A., Ziółko, B., & Kowalska, I. (2022) · Endocrine Connections · doi:10.1530/ec-21-0505 · Cited by 18
Perinatal testosterone exposure and cerebral lateralisation in adult males: Evidence for the callosal hypothesis
Lawson, L. P., Maybery, M. T., Keelan, J. A., Hickey, M., & Whitehouse, A. (2014) · Biological Psychology · doi:10.1016/j.biopsycho.2014.08.009 · Cited by 18
Alternative Strategies for the Treatment of Classical Congenital Adrenal Hyperplasia: Pitfalls and Promises
Loechner, K. J., McLaughlin, J. T., & Calikoglu, A. S. (2010) · International Journal of Pediatric Endocrinology · doi:10.1155/2010/670960 · Cited by 16
Final height in congenital adrenal hyperplasia: the dilemma of hypercortisolism versus hyperandrogenism
Cordeiro, G. V., Silva, I. N., Goulart, E. M. A., das Chagas, A. J., & Kater, C. E. (2013) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302013000200005 · Cited by 18
Hormonal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Bachelot, A., Chakhtoura, Z., Rouxel, A., Dulon, J., & Touraine, P. A. (2007) · Annales d Endocrinologie · doi:10.1016/j.ando.2007.06.019 · Cited by 18
Adrenal cortex–medulla interactions in adaptation to stress and disease
Bornstein, S. R., Berger, I., Scriba, L. D., Santambrogio, A., & Steenblock, C. (2019) · Current Opinion in Endocrine and Metabolic Research · doi:10.1016/j.coemr.2019.06.005 · Cited by 18
Self-citation
Adrenogenitales Syndrom und Wachstumshormonmangel
Dörr, H. G., & Schöfl, C. (2009) · Der Internist · doi:10.1007/s00108-009-2401-3 · Cited by 17
Adiponectin levels are high in children with classic congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency
Völkl, T. M. K., Simm, D., Körner, A., Kieß, W., Kratzsch, J., & Dörr, H. G. (2009) · Acta Paediatrica · doi:10.1111/j.1651-2227.2009.01231.x · Cited by 19
Genetic defects of the CYP21A2 gene in girls with premature adrenarche
Skordis, N., Shammas, C., Phedonos, A., Kyriakou, A., Toumba, M., Neocleous, V., & Phylactou, L. A. (2014) · Journal of Endocrinological Investigation · doi:10.1007/s40618-014-0223-1 · Cited by 17
Development of the congenital adrenal hyperplasia knowledge assessment questionnaire (CAHKAQ*)
King, J., Mitchelhill, I., & Fisher, M. (2007) · Journal of Clinical Nursing · doi:10.1111/j.1365-2702.2006.01851.x · Cited by 17
Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia
Prado, M. J., de Castro, S. M., Kopacek, C., de Mello, M. P., Rispoli, T., Grandi, T., da Silva, C. M. D., & Rossetti, M. L. R. (2017) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-017-0296-6 · Cited by 17
Management of congenital adrenal hyperplasia in childhood
Kim, M. S., Ryabets‐Lienhard, A., & Geffner, M. E. (2012) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0b013e32835a1a1b · Cited by 17
Lower body weight and BMI at birth were associated with early adiposity rebound in 21-hydroxylase deficiency patients
Takishima, S., Nakajima, K., Nomura, R., Tsuji‐Hosokawa, A., Matsuda, N., Matsubara, Y., Ono, M., Miyai, K., Takasawa, K., Morio, T., et al. (2016) · Endocrine Journal · doi:10.1507/endocrj.ej16-0194 · Cited by 18
Prenatal Androgens Affect Development and Behavior in Primates
Smith, A. S., Birnie, A. K., & French, J. A. (2012) · Springer eBooks · doi:10.1007/978-1-4614-4060-4_5 · Cited by 17
“…postnatal gender-typical behavior in humans comes from studying women with CAH, an autosomal disorder that causes a de fi ciency for 21-hydroxlase and subsequent decreases in cortisol and increases in androgens in fetal circulation (reviewed in Merke and Bornstein 2005 ; White and Speiser 2000 ) .”
Background
Past, Present and Future of Human Chromaffin Cells: Role in Physiology and Therapeutics
Pérez‐Alvarez, A., Hernández‐Vivanco, A., & Albillos, A. (2010) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-010-9582-0 · Cited by 17
“Further, diminished catecholamine levels seem to correlate with the rate of hospitalization due to hypoglycemia and hypotensive crisis in children with CAH (Hinde and Johnston 1984; Merke and Bornstein 2005).”
Background
Should 21-hydroxylase deficiency genotyping be considered in assisted reproductive technology programs?
Ezquieta, B., Alonso, M., Álvarez, E., Arnao, D. R., Rodríguez, A., & Siguero, J. P. L. (2007) · Fertility and Sterility · doi:10.1016/j.fertnstert.2007.01.030 · Cited by 17
The Steroidogenic Acute Regulatory (STAR) Gene Anatomy, Expression, and Roles
Lim, J., & Cheon, Y. (2025) · Development & Reproduction · doi:10.12717/dr.2025.29.3.63 · Cited by 17
“The spatial and temporal precision of StAR expression reflects its indispensable role in orchestrating key events in endocrine organ formation and steroidogenesis (Merke & Bornstein, 2005; Miller, 2025).”
The role of imaging in congenital adrenal hyperplasia
Teixeira, S. R., Elias, P. C. L., Andrade, M. T. S., Melo, A., & Elías, J. (2014) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/0004-2730000003371 · Cited by 17
Epicardial Fat Thickness in Children with Classic Congenital Adrenal Hyperplasia
Metwalley, K. A., Farghaly, H. S., & Abdelhamid, A. (2018) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.galenos.2018.2018.0153 · Cited by 15
Magnetic Resonance Imaging in Paediatric Psychoneuroendocrinology: A New Frontier for Understanding the Impact of Hormones on Emotion and Cognition
Mueller, S. C. (2013) · Journal of Neuroendocrinology · doi:10.1111/jne.12048 · Cited by 15
Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children
Kashimada, K., Ishii, T., Nagasaki, K., Ono, M., Tajima, T., Yokota, I., & Hasegawa, Y. (2015) · Endocrine Journal · doi:10.1507/endocrj.ej14-0377 · Cited by 17
Surgical Management of Disorders of Sexual Differentiation, Cloacal Malformation, and Other Abnormalities of the Genitalia in Girls
Rink, R. C., & Kaefer, M. A. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4160-6911-9.00134-1 · Cited by 16
Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia
Neocleous, V., Fanis, P., Phylactou, L. A., & Skordis, N. (2018) · Frontiers in Endocrinology · doi:10.3389/fendo.2018.00733 · Cited by 16
Low-Dose Dexamethasone Therapy from Infancy of Virilizing Congenital Adrenal Hyperplasia
Rivkees, S. A., & Stephenson, K. (2009) · International Journal of Pediatric Endocrinology · doi:10.1155/2009/274682 · Cited by 16
Cross reactions elicited by serum 17-OH progesterone and 11-desoxycortisol in cortisol assays
Brossaud, J., Barat, P., Gualde, D., & Corcuff, J. (2009) · Clinica Chimica Acta · doi:10.1016/j.cca.2009.05.019 · Cited by 16
Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Dörr, H.-G., Schulze, N., Bettendorf, M., Binder, G., Bonfig, W., Denzer, C., Dunstheimer, D., Salzgeber, K., Schmidt, H., Schwab, K. O., et al. (2020) · Molecular and Cellular Pediatrics · doi:10.1186/s40348-020-00100-w · Cited by 14
Magnetic Resonance Imaging of the Vocal Folds in Women With Congenital Adrenal Hyperplasia and Virilized Voices
Nygren, U., Isberg, B., Arver, S., Hertegård, S., Södersten, M., & Nordenskjöld, A. (2016) · Journal of Speech Language and Hearing Research · doi:10.1044/2016_jslhr-s-14-0191 · Cited by 15
“…autosomal recessive inherited disorder, are born with an enzyme deficiency that causes abnormally high production of endogenous androgens as a compensatory feedback mechanism to counterbalance deficiencies in cortisol and sometimes also aldosterone (Merke & Bornstein, 2005; White & Speiser, 2000).”
Background
Emotional and behavioral adjustment in 4 to 11-year-old boys and girls with classic congenital adrenal hyperplasia and unaffected siblings
Kung, K. T. F., Spencer, D., Pasterski, V., Neufeld, S., Hindmarsh, P. C., Hughes, I. A., Acerini, C. L., & Hines, M. (2018) · Psychoneuroendocrinology · doi:10.1016/j.psyneuen.2018.07.004 · Cited by 15
The Frequency and the Effects of 21-Hydroxylase Gene Defects in Congenital Adrenal Hyperplasia Patients
Kıraç, D., Güney, A. İ., Akçay, T., Güran, T., Ulucan, K., Turan, S., Ergeç, D., Koç, G., Eren, F., Kaspar, E. Ç., et al. (2014) · Annals of Human Genetics · doi:10.1111/ahg.12083 · Cited by 15
“In the nonclassic (NC) type, patients do not have cortisol deficiency, but generally later in childhood or in early adulthood they have manifestation of hyperandrogenism (Merke & Bornstein, 2005).”
Background
Finger Length Ratios of Identical Twins with Discordant Sexual Orientations
Watts-Overall, T. M., Holmes, L., Raines, J., Orbell, S., & Rieger, G. (2018) · Archives of Sexual Behavior · doi:10.1007/s10508-018-1262-z · Cited by 15
Functional and Structural Consequences of a Novel Point Mutation in theCYP21A2Gene Causing Congenital Adrenal Hyperplasia: Potential Relevance of Helix C for P450 Oxidoreductase-21-Hydroxylase Interaction
Riepe, F. G., Hiort, O., Grötzinger, J., Sippell, W. G., Krone, N. P., & Holterhus, P. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-2646 · Cited by 16
Sex Differences in the Social Behavior Network and Mesolimbic Dopamine System
Greenberg, G. D., & Trainor, B. C. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-802114-9.00004-4 · Cited by 16
“Women diagnosed with CAH are exposed to elevated androgen levels during fetal development (Merke and Bornstein, 2005).”
Background
Persistent LHPA Activation in German Individuals Raised in an Overprotective Parental Behavior
Ullmann, E., Licinio, J., Barthel, A., Petrowski, K., Stalder, T., Bornstein, S. R., & Kirschbaum, C. (2017) · Scientific Reports · doi:10.1038/s41598-017-01718-z · Cited by 14
Self-citation
Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Chen, W., Xu, Z., Nishitani, M., Van Ryzin, C., McDonnell, N. B., & Merke, D. P. (2012) · Human Genetics · doi:10.1007/s00439-012-1217-8 · Cited by 18
“The defect in cortisol biosynthesis results in a compensatory increase in corticotrophin and stimulation of the adrenal cortex, leading to androgen excess (Merke and Bornstein 2005).”
BackgroundSelf-citation
Grey matter volume correlates with virtual water maze task performance in boys with androgen excess
Mueller, S. C., Merke, D. P., Leschek, E., Fromm, S. J., Grillon, C., Cornwell, B. R., VanRyzin, C., & Ernst, M. (2011) · Neuroscience · doi:10.1016/j.neuroscience.2011.09.022 · Cited by 14
Self-citation
Expression of progenitor markers is associated with the functionality of a bioartificial adrenal cortex
Balyura, M., Gelfgat, E., Steenblock, C., Androutsellis‐Theotokis, A., Ruiz‐Babot, G., Guasti, L., Werdermann, M., Ludwig, B., Bornstein, T. D., Schally, A. V., et al. (2018) · PLoS ONE · doi:10.1371/journal.pone.0194643 · Cited by 14
Self-citation
Variations in the 3′UTR of theCYP21A2Gene in Heterozygous Females with Hyperandrogenaemia
Neocleous, V., Fanis, P., Toumba, M., Phedonos, A., Picolos, M. K., Andreou, E., Kyriakides, T. C., Tanteles, G. A., Shammas, C., Phylactou, L. A., et al. (2017) · International Journal of Endocrinology · doi:10.1155/2017/8984365 · Cited by 14
Clinical Manifestations and Treatment Challenges in Infants and Children With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Nokoff, N., Buchanan, C., & Barker, J. M. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae563 · Cited by 15
“There is no evidence that higher glucocorticoid doses prevent hypoglycemia and epinephrine deficiency may play a role (15, 17).”
Influential
Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Xia, Y., Shi, P., Gao, S., Liu, N., Zhang, H., & Kong, X. (2022) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2022.106156 · Cited by 14
Effects of hormonal changes on the human voice: a review
Afsah, O. (2024) · The Egyptian Journal of Otolaryngology · doi:10.1186/s43163-024-00578-5 · Cited by 13
Neonatal screening for congenital adrenal hyperplasia: transitory elevation of 17-hydroxyprogesterone
Fernández, B. H., Fernández, M. E., Íñiguez, E. D., Zubicaray, B. E., Martín, M. B. R., Arnao, M. D. R., & Sánchez, A. R. (2011) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2011.007 · Cited by 13
Prenatal assessment of fetal chromosomal and genetic disorders through maternal plasma DNA analysis
Liao, G. J. W., Chiu, R. W. K., & Lo, Y. M. D. (2011) · Pathology · doi:10.1097/pat.0b013e32834e8e29 · Cited by 13
Undernutrition and hyperandrogenism during pregnancy: Role in programming of cardiovascular disease and infertility
Mossa, F., Latham, K. E., Ireland, J. J., & Veiga‐Lopez, A. (2019) · Molecular Reproduction and Development · doi:10.1002/mrd.23239 · Cited by 13
“These models recapitulate high androgen levels, close to those observed in pregnant women with congenital adrenal hyperplasia (Merke & Bornstein, 2005) and, overall, this evidence supports a link between maternal hyperandrogenemia and poor health in daughters.”
Good overall behavioural adjustment in children and adolescents with classic congenital adrenal hyperplasia
Messina, V., Hirvikoski, T., Karlsson, L., Vissani, S., Wallensteen, L., Ortolano, R., Balsamo, A., Nordenström, A., & Lajić, S. (2020) · Endocrine · doi:10.1007/s12020-020-02244-1 · Cited by 13
Influence of the A3669G Glucocorticoid Receptor Gene Polymorphism on the Metabolic Profile of Pediatric Patients with Congenital Adrenal Hyperplasia
Moreira, R. P. P., Gomes, L. G., Madureira, G., Mendonca, B. B., & Bachega, T. A. S. S. (2014) · International Journal of Endocrinology · doi:10.1155/2014/594710 · Cited by 13
Role of mass spectrometry in steroid assays
Zendjabil, M., Chellouai, Z., & Abbou, O. (2016) · Annales d Endocrinologie · doi:10.1016/j.ando.2016.01.004 · Cited by 13
Prenatal Treatment of Congenital Adrenal Hyperplasia
Hughes, I. A. (2006) · Treatments in Endocrinology · doi:10.2165/00024677-200605010-00001 · Cited by 13
Non-classical congenital adrenal hyperplasia: current insights into clinical implications, diagnosis and treatment
Loli, P., Menotti, S., di Filippo, L., & Giustina, A. (2025) · Endocrine · doi:10.1007/s12020-025-04341-5 · Cited by 13
Sonographic measure techniques of fetal penile length
Soto, Á. L., González, J. L. M., Pérez, R. L., Fernández, M. L., Uriarte, J. M., & Izquierdo, O. G. (2020) · Obstetrics & Gynecology Science · doi:10.5468/ogs.20087 · Cited by 12
Endocrine Hypertension
William F. Young (2016) · Elsevier eBooks · doi:10.1016/b978-0-323-29738-7.00016-2 · Cited by 11
Body Image in Adolescents with Disorders of Steroidogenesis
Ning, C., Green-Golan, L., Stratakis, C. A., Leschek, E., Sinaii, N., Schroth, E., Monique Ernst, D., & Merke, D. P. (2008) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2008.21.8.771 · Cited by 12
Self-citation
A model for measuring the health burden of classic congenital adrenal hyperplasia in adults
Hummel, S., Sadler, S., Whitaker, M. J., Ara, R., Dixon, S., & Ross, R. J. M. (2016) · Clinical Endocrinology · doi:10.1111/cen.13060 · Cited by 12
Congenital Adrenal Hyperplasia and Related Disorders
White, P. C. (2011) · Elsevier eBooks · doi:10.1016/b978-1-4377-0755-7.00570-4 · Cited by 11
Low Adrenomedullary Function Predicts Acute Illness in Infants with Classical Congenital Adrenal Hyperplasia.
Weber, J., Tanawattanacharoen, V. K., Seagroves, A., Liang, M. C., Koppin, C. M., Ross, H. M., Bachega, T. A. S. S., Geffner, M. E., Serrano-Gonzalez, M., Bhullar, G., et al. (2022) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgab600 · Cited by 11
Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency
Zhang, X., Gao, Y., Lü, L., Cao, Y., Zhang, W., Sun, B., Wu, X., Tong, A., Chen, S., Wang, X., et al. (2023) · Journal of Endocrinological Investigation · doi:10.1007/s40618-023-02197-y · Cited by 12
A high rate of novel CYP11B1 mutations in Saudi Arabia
Alzahrani, A. S., Alswailem, M. M., Murugan, A. K., Alhomaidah, D. S., Capper, C. P., Auchus, R. J., Qasem, E., Alzahrani, O., Alsagheir, A., & Bin-Abbas, B. S. (2017) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2017.09.018 · Cited by 12
First Evidence Indicates the Physiology- and Axial-Myopia-Dependent Profiles of Steroid Hormones in Aqueous Humor
Chou, T., Xiaosheng, H., Liu, J., Liu, X., Zeng, K., Yan, Z., Mei, S., Sun, L., Xi, W., Ni, J., et al. (2022) · Metabolites · doi:10.3390/metabo12121220 · Cited by 11
“Deborah and Stefan [10] claimed that simultaneous multiple hormonal imbalances of glucocorticoids, mineralocorticoids or sex hormones were found in the plasma of patients with congenital adrenal hyperplasia (CAH), while Ye et al.”
Background
Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2A>G Mutations of the CYP21A2 Gene
Taboas, M., Acuña, L. I. G., Scaia, M. F., Bruque, C. D., Buzzalino, N. D., Stivel, M., Ceballos, N. R., & Daín, L. (2014) · PLoS ONE · doi:10.1371/journal.pone.0092181 · Cited by 11
Initial presentations and associated clinical findings in patients with classical congenital adrenal hyperplasia
Milyani, A. A., Al-Agha, A. E., & Alzanbagi, M. A. (2018) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2018-0029 · Cited by 11
Adiposity is Associated with Decreased Serum 17-Hydroxyprogesterone Levels in Non-Diabetic Obese Men Aged 18–49: A Cross-Sectional Study
Martínez‐Montoro, J. I., Molina‐Vega, M., Asenjo‐Plaza, M., García‐Ruiz, M. C., Varea‐Marineto, E., Plaza-Andrades, I. J., Álvarez‐Millán, J. J., Cabezas-Sánchez, P., Tinahones, F. J., & Fernández‐García, J. C. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9123873 · Cited by 11
Does common channel length affect surgical choice in female congenital adrenal hyperplasia patients?
Tuğtepe, H., Thomas, D. T., Turan, S., Çizmecioğlu, F., Hatun, Ş., Bereket, A., & Dagli, E. T. (2014) · Journal of Pediatric Urology · doi:10.1016/j.jpurol.2014.02.012 · Cited by 11
Testicular adrenal rest tumor in infertile man with congenital adrenal hyperplasia: case report and literature review
Marchini, G. S., Cocuzza, M., de Souza, R. P., Torricelli, F. C. M., Hallak, J., & Srougi, M. (2011) · Sao Paulo Medical Journal · doi:10.1590/s1516-31802011000500010 · Cited by 11
Low-Dose Dexamethasone Therapy from Infancy of Virilizing Congenital Adrenal Hyperplasia
Rivkees, S., & Stephenson, K. (2009) · International Journal of Pediatric Endocrinology · doi:10.1186/1687-9856-2009-274682 · Cited by 11
Positive fertility outcomes in a female with classic congenital adrenal hyperplasia following bilateral adrenalectomy
Dagalakis, U., Mallappa, A., Elman, M., Quezado, M., & Merke, D. P. (2016) · International Journal of Pediatric Endocrinology · doi:10.1186/s13633-016-0028-4 · Cited by 10
Self-citation
Sex differences in androgen regulation of metabolism in nonhuman primates
True, C., Abbott, D. H., Roberts, C. T., & Varlamov, O. (2017) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-70178-3_24 · Cited by 10
Demographics, in-hospital analysis, and prevalence of 33 rare diseases with effective treatment in Shanghai
Cai, X., Genchev, G. Z., He, P., Lu, H. J., & Yu, G. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-01830-4 · Cited by 10
Impact of nasal continuous positive airway pressure for congenital adrenal hyperplasia with obstructive sleep apnea and bruxism
Hamada, S., Chin, K., Hitomi, T., Oga, T., Handa, T., Tuboi, T., Niimi, A., & Mishima, M. (2011) · Sleep And Breathing · doi:10.1007/s11325-011-0494-0 · Cited by 8
Monitoring treatment in pediatric patients with 21-hydroxylase deficiency
Itonaga, T., & Hasegawa, Y. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1102741 · Cited by 10
“21-hydroxylase deficiency (21-OHD), the most common form of congenital adrenal hyperplasia, is an autosomal recessive disease caused by mutations in CYP21A2 and has an incidence of 1:15,000-18,000 births (1, 2).”
Background
Urogenital sinus malformation: From development to management
Ding, Y., Wang, Y., Lyu, Y., Xie, H., Huang, Y., Wu, M., Chen, F., & Chen, Z. (2023) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2023.01027 · Cited by 14
Organizational Effects of Gonadal Hormones on Human Sexual Orientation
Swift‐Gallant, A., Aung, T., Rosenfield, K. A., Dawood, K., & Puts, D. A. (2023) · Adaptive Human Behavior and Physiology · doi:10.1007/s40750-023-00226-x · Cited by 11
Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Güneş, S. O., Kendırcı, H. N. P., Ünal, E., Buluş, A. D., Dündar, İ., & Şıklar, Z. (2024) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.galenos.2024.2024-6-6-s · Cited by 10
A 68-Year-Old Phenotypically Male Patient with 21-Hydroxylase Deficiency and Concomitant Adrenocortical Neoplasm Producing Testosterone and Cortisol
Hayashi, M., Kataoka, Y., Sugimura, Y., Kato, F., Fukami, M., Ogata, T., Homma, K., Hasegawa, T., Oiso, Y., Sasano, H., et al. (2013) · The Tohoku Journal of Experimental Medicine · doi:10.1620/tjem.231.75 · Cited by 10
Congenital Adrenal Hyperplasia, Polycystic Ovary Syndrome and criminal behavior: A Swedish population based study
Gotby, A. O., Nordenström, A., Falhammar, H., Nordenskjöld, A., Hirschberg, A. L., Frisén, L., Landén, M., & Lichtenstein, P. (2015) · Psychiatry Research · doi:10.1016/j.psychres.2015.07.008 · Cited by 10
Psychological vulnerability to stress in carriers of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Kyritsi, E. M., Koltsida, G., Farakla, I., Papanikolaou, A., Critselis, E., Mantzou, A., Zoumakis, E., Kolaitis, G. A., Chrousos, G. P., & Charmandari, E. (2017) · HORMONES · doi:10.14310/horm.2002.1718 · Cited by 10
Neonatal Screening for Hyperthyroidism Proof of Concept
Banigé, M., Kariyawasam, D., Gauthereau, V., Luton, D., & Polak, M. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgab890 · Cited by 10
Incentive processing in Congenital Adrenal Hyperplasia (CAH): A reward-based antisaccade study
Mueller, S. C., Daniele, T., Macintyre, J. M., Korelitz, K. E., Carlisi, C. O., Hardin, M. G., Ryzin, C. V., Merke, D. P., & Ernst, M. (2012) · Psychoneuroendocrinology · doi:10.1016/j.psyneuen.2012.08.001 · Cited by 11
Self-citation
Dehydroepiandrosterone-sulphate (DHEA-S) promotes neuroendocrine differentiation of chromaffin pheochromocytoma PC12 cells
Krug, A. W., Langbein, H., Ziegler, C. G., Bornstein, S. R., Eisenhofer, G., & Ehrhart‐Bornstein, M. (2008) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2008.10.026 · Cited by 10
Self-citation
Alopecia androgénica prematura en un varón con déficit de 21-hidroxilasa no clásico. Nueva mutación grave (Y336X) del gen CYP21A2 en 2 hermanos afectados
González, C. B., Salas, C. F., Martínez, S., & Zubicaray, B. E. (2006) · Medicina Clínica · doi:10.1016/s0025-7753(06)72688-4 · Cited by 10
A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report
Yuan, X., Lü, L., Chen, S., Jiang, J., Wang, X., Liu, Z., Zhu, H., Pan, H., & Lu, Z. (2018) · BMC Endocrine Disorders · doi:10.1186/s12902-018-0295-6 · Cited by 11
Congenital Adrenal Hyperplasia
Mallappa, A., & Merke, D. P. (2017) · Management of Adrenal Masses in Children and Adults · doi:10.1007/978-3-319-44136-8_11 · Cited by 8
Self-citation
Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry
Lawrence, N., Bacila, I. A., Dawson, J., Bryce, J., Ali, S., van den Akker, E. L. T., Bachega, T. A. S. S., Baronio, F., Birkebæk, N., Bonfig, W., et al. (2022) · Clinical Endocrinology · doi:10.1111/cen.14796 · Cited by 9
Cohort profile: pathways to care among people with disorders of sex development (DSD)
Goodman, M. G., Yacoub, R., Getahun, D., McCracken, C., Vupputuri, S. X., Lash, T. L., Roblin, D. W., Contreras, R., Cromwell, L., Gardner, M. D., et al. (2022) · BMJ Open · doi:10.1136/bmjopen-2022-063409 · Cited by 9

Authors: Merke, D. P., & Bornstein, S. R.
Affiliations: National Institutes of Health (US)
Technische Universität Dresden (DE)
Corresponding author: Merke, Deborah P
ORCID: Merke, Deborah P
Bornstein, Stefan R
Venue: The Lancet
Publisher: Elsevier BV
Published: 2005-06
Volume: 365
Issue: 9477
Pages: 2125-2136
ISSN: 0099-5355 (ISSN-L)
0140-6736
DOI: 10.1016/s0140-6736(05)66736-0
OpenAlex: W2913693499
Cited by: 628
References: 153
Citations by year: 2026: 14 · 2025: 22 · 2024: 22 · 2023: 28 · 2022: 33 · 2021: 34 · 2020: 27 · 2019: 21 · 2018: 29 · 2017: 37 · 2016: 42 · 2015: 36 · 2014: 38 · 2013: 33 · 2012: 43
FWCI: 1.84
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: The Lancet (publishedVersion)
PubMed (publishedVersion)
Site cant be reached (submittedVersion)
Topics: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords: congenital adrenal hyperplasia, 21-hydroxylase deficiency, cortisol deficiency, aldosterone deficiency, hyperandrogenism, newborn screening, prenatal diagnosis, hormone replacement therapy, iatrogenic Cushing's syndrome, infertility, metabolic syndrome, pathophysiology, diagnosis
MeSH terms: Adrenal Hyperplasia, Congenital, Humans

About these checks

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

Statistics and arithmetic are recomputed, not judged.

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

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

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

Congenital adrenal hyperplasia.

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks