Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia

Turcu, Adina F.; Auchus, Richard J.

doi:10.1016/j.ecl.2015.02.002

Cited by 181Sexual Differentiation and DisordersAdrenal Hormones and DisordersHormonal Regulation and Hypertension

Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia

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Turcu, Adina F., Auchus, Richard J.·2015·Endocrinology and Metabolism Clinics of North America

DOI 10.1016/j.ecl.2015.02.002PMC PMC4506691

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Abstract

Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids (primarily aldosterone), glucocorticoids (primarily cortisol), and adrenal androgens (primarily dehydroepiandrosterone and its sulfate) occur in separate adrenal cortical zones, each expressing specific enzymes. Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal-recessive enzymatic defects in cortisol biosynthesis. 21-Hydroxylase (21OHD) deficiency accounts for more than 90% of CAH cases and, when milder or nonclassic forms are included, 21OHD is one of the most common genetic diseases.

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Adrenal androgen biosynthesis proceeds via the classical Δ5 pathway.
“Adrenal androgen biosynthesis takes place in the zona reticularis and proceeds via the classical Δ5 pathway (Miller and Auchus, 2011, Turcu and Auchus, 2015) as depicted in Fig. 2.”
From Intracrine androgen biosynthesis, metabolism and action revisited (2018) · cites this paper as Turcu and Auchus, 2015
Adrenal androgen biosynthesis takes place in the zona reticularis.
“Adrenal androgen biosynthesis takes place in the zona reticularis and proceeds via the classical Δ5 pathway (Miller and Auchus, 2011, Turcu and Auchus, 2015) as depicted in Fig. 2.”
From Intracrine androgen biosynthesis, metabolism and action revisited (2018) · cites this paper as Turcu and Auchus, 2015

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Subnormal androgen and elevated progesterone levels in women treated for congenital virilizing 21-hydroxylase deficiency
Helleday, J. (1993) · Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.76.4.933 · Cited by 111 · see citing works
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Carlson, A. D., Obeid, J. S., Kanellopoulou, N., Wilson, R. C., & New, M. I. (1999) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/s0960-0760(99)00059-x · Cited by 110 · see citing works
Health Problems in Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Reisch, N., Arlt, W., & Krone, N. P. (2011) · Hormone Research in Paediatrics · doi:10.1159/000327794 · Cited by 107 · see citing works
Aldosterone Synthesis in Salt-Wasting Congenital Adrenal Hyperplasia with Complete Absence of Adrenal 21-Hydroxylase
Speiser, P., Agdere, L., Ueshiba, H., White, P. C., & New, M. I. (1991) · New England Journal of Medicine · doi:10.1056/nejm199101173240302 · Cited by 106 · see citing works
Early androgen exposure modulates spatial cognition in congenital adrenal hyperplasia (CAH)
Mueller, S. C., Temple, V., Oh, E., VanRyzin, C., Williams, A., Cornwell, B., Grillon, C., Pine, D. S., Monique Ernst, D., & Merke, D. P. (2008) · Psychoneuroendocrinology · doi:10.1016/j.psyneuen.2008.04.005 · Cited by 105 · see citing works
Growth Hormone Therapy Alone or in Combination with Gonadotropin-Releasing Hormone Analog Therapy to Improve the Height Deficit in Children with Congenital Adrenal Hyperplasia1
Quintos, J. B., Vogiatzi, M. G., Harbison, M. D., & New, M. I. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.4.7412 · Cited by 104 · see citing works
Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency
Marsh, C. A., & Auchus, R. J. (2014) · Fertility and Sterility · doi:10.1016/j.fertnstert.2013.11.011 · Cited by 103 · see citing works
Self-citation
High frequency of adrenal myelolipomas and testicular adrenal rest tumours in adult Norwegian patients with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency: Adrenal tumours and TART in 21-OHD
Nermoen, I., Rørvik, J., Holmedal, S. H., Hykkerud, D. L., Fougner, K. J., Svartberg, J., Husebye, E. S., & Løvås, K. (2011) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2011.04151.x · Cited by 103 · see citing works
CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency
Balsamo, A., Cicognani, A., Baldazzi, L., Barbaro, M., Baronio, F., Gennari, M., Bal, M., Cassio, A., Kontaxaki, K., & Cacciari, E. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-030123 · Cited by 102 · see citing works
Prenatal dexamethasone use for the prevention of virilization in pregnancies at risk for classical congenital adrenal hyperplasia because of 21-hydroxylase (CYP21A2) deficiency: a systematic review and meta-analyses
Mercè Fernández‐Balsells, M., Muthusamy, K., Smushkin, G., Lampropulos, J. F., Elamin, M. B., Abu Elnour, N. O., Elamin, K. B., Agrwal, N., Gallegos‐Orozco, J. F., Lane, M. A., et al. (2010) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2010.03826.x · Cited by 101 · see citing works
Early growth, pubertal development, body mass index and final height of patients with congenital adrenal hyperplasia: factors influencing the outcome
Manoli, I., Kanaka-Gantenbein, C., Voutetakis, A., Maniati-Christidi, M., & Dacou‐Voutetakis, C. (2002) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2002.01645.x · Cited by 100 · see citing works
Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience
Schwarz, E., Liu, A., Randall, H., Haslip, C., Keune, F., Murray, M., Longo, N., & Pasquali, M. (2009) · Pediatric Research · doi:10.1203/pdr.0b013e3181aa3777 · Cited by 97 · see citing works
Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency
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Self-citation
Fertility in Women With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Stikkelbroeck, N. M. M. L., Hermus, A. R., Braat, D. D. M., & Otten, B. J. (2003) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000062966.93819.5b · Cited by 95 · see citing works
Unfavourable trends in cardiovascular and metabolic risk in paediatric and adult patients with congenital adrenal hyperplasia?
Mooij, C. F., Kroese, J. M., Claahsen‐van der Grinten, H. L., Tack, C. J., & Hermus, A. R. M. M. (2010) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2009.03690.x · Cited by 92 · see citing works
Effect of newborn screening for congenital adrenal hyperplasia
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Extraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase Deficiency
Gomes, L. G., Huang, N., Agrawal, V., Mendonça, B. B., Bachega, T. A. S. S., & Miller, W. L. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-1174 · Cited by 91 · see citing works
The role of bilateral adrenalectomy in the treatment of congenital adrenal hyperplasia
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Cerebral lateralization and cognitive functioning in patients with congenital adrenal hyperplasia.
Kelso, W. M., Nicholls, M. E. R., Warne, G. L., & Zacharin, M. (2000) · Neuropsychology · doi:10.1037//0894-4105.14.3.370 · Cited by 83 · see citing works
Testicular adrenal rest tumors develop independently of long-term disease control: a longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency
Reisch, N., Rottenkolber, M., Greifenstein, A., Krone, N., Schmidt, H., Reincke, M., Schwarz, H.-P., & Beuschlein, F. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-3181 · Cited by 82 · see citing works
Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia
Falhammar, H., Filipsson Nyström, H., Wedell, A., Brismar, K., & Thorén, M. (2013) · European Journal of Endocrinology · doi:10.1530/eje-12-0865 · Cited by 82 · see citing works
General intelligence and cognitive profile in women with congenital adrenal hyperplasia (CAH)
Helleday, J., Bartfai, A., Ritzén, E. M., & Forsman, M. (1994) · Psychoneuroendocrinology · doi:10.1016/0306-4530(94)90015-9 · Cited by 80 · see citing works
Growth Hormone Therapy Alone or in Combination with Gonadotropin-Releasing Hormone Analog Therapy to Improve the Height Deficit in Children with Congenital Adrenal Hyperplasia
Quintos, J. B. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.86.4.1511 · Cited by 80 · see citing works
Pilot Studies of Estrogen-Related Physical Findings in Infants
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A preliminary study of flutamide, testolactone, and reduced hydrocortisone dose in the treatment of congenital adrenal hyperplasia
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Efficiency of Neonatal Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency in Children Born in Mainland France Between 1996 and 2003
Coulm, B. (2012) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/archpediatrics.2011.774 · Cited by 73 · see citing works
Pituitary gonadal axis and child rate in males with classical 21-hydroxylase deficiency
Jääskeläinen, J., Kiekara, O., Hippeläinen, M., & Voutilainen, R. (2000) · Journal of Endocrinological Investigation · doi:10.1007/bf03343671 · Cited by 71 · see citing works
Impaired Cognitive Function in Women with Congenital Adrenal Hyperplasia
Johannsen, T. H., Ripa, C. P. L., Reinisch, J. M., Schwartz, M., Mortensen, E. L., & Main, K. M. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-1959 · Cited by 70 · see citing works
Child rate, pregnancy outcome and ovarian function in females with classical 21-hydroxylase deficiency
Jääskeläinen, J., Hippeläinen, M., Kiekara, O., & Voutilainen, R. (2000) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1034/j.1600-0412.2000.079008687.x · Cited by 70 · see citing works
Transcriptional Regulation of Human 11β-Hydroxylase (hCYP11B1)
Wang, X.-L., Bassett, M. H., Zhang, Y., Yin, S. F., Clyne, C. D., White, P. C., & Rainey, W. E. (2000) · Endocrinology · doi:10.1210/endo.141.10.7689 · Cited by 69 · see citing works
Pharmacologic suppression of the fetal adrenal gland in utero. Attempted prevention of abnormal external genital masculinization in suspected congenital adrenal hyperplasia.
Evans, M. I., Chrousos, G. P., Mann, D., Larsen, J. W., Green, I., McCluskey, J., Loriaux, D. L., Fletcher, J. C., Koons, G., & OVERPECK, J. G. (1985) · PubMed · Cited by 69 · see citing works
Cognitive Outcome in Adult Women Affected by Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Malouf, M. A., Migeon, C. J., Carson, K. A., Petrucci, L., & Wisniewski, A. B. (2006) · Hormone Research in Paediatrics · doi:10.1159/000091793 · Cited by 68 · see citing works
Ovarian adrenal rest tumor in a congenital adrenal hyperplasia patient with adrenocorticotropin hypersecretion following adrenalectomy
Tiosano, D., Vlodavsky, E., Filmar, S., Weiner, Z., Goldsher, D., & Bar-Shalom, R. (2010) · Hormone Research in Paediatrics · doi:10.1159/000295722 · Cited by 65 · see citing works
An update on prenatal diagnosis and treatment of congenital adrenal hyperplasia
Abraham, M., Yuen, T., Lekarev, O., & New, M. (2012) · Seminars in Reproductive Medicine · doi:10.1055/s-0032-1324723 · Cited by 64 · see citing works
Congenital Adrenal Hyperplasia Due to 21 Hydroxylase Deficiency: From Birth to Adulthood
Bachega, T. A. S. S., & White, P. C. (2012) · Seminars in Reproductive Medicine · doi:10.1055/s-0032-1324724 · Cited by 63 · see citing works
CONGENITAL ADRENAL HYPERPLASIA OWING TO 3β-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY
Pang, S. (2001) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(08)70020-3 · Cited by 63 · see citing works
Cerebral lateralization and cognitive functioning in patients with congenital adrenal hyperplasia.
Kelso, W. M., Nicholls, M. E. R., Warne, G. L., et al. (2000) · Neuropsychology · doi:10.1037/0894-4105.14.3.370 · Cited by 63 · see citing works
Cases of congenital adrenal hyperplasia missed by newborn screening in Minnesota
Sarafoglou, K., Banks, K., Kyllo, J., Pittock, S., & Thomas, W. (2012) · JAMA · doi:10.1001/jama.2012.5281 · Cited by 62 · see citing works
Newborn screening for congenital adrenal hyperplasia has reduced sensitivity in girls
Varness, T. S., Allen, D. B., & Hoffman, G. L. (2005) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2005.04.035 · Cited by 61 · see citing works
Genetic Steroid Disorders
New, M. I. (2014) · Elsevier eBooks · doi:10.1016/c2010-0-68453-7 · Cited by 61 · see citing works
Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in theCYP11B1Gene
Krone, N. P., Riepe, F. G., Götze, D., Korsch, E., Rister, M., Commentz, J., Partsch, C., Grötzinger, J., Peter, M., & Sippell, W. G. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-0089 · Cited by 58 · see citing works
Clinical and Pathological Features Associated With the Testicular Tumor of the Adrenogenital Syndrome
Ashley, R., McGee, S. M., Isotaolo, P. A., Kramer, S. A., & Cheville, J. C. (2007) · The Journal of Urology · doi:10.1016/j.juro.2006.09.041 · Cited by 57 · see citing works
Control of childhood congenital adrenal hyperplasia and sleep activity and quality with morning or evening glucocorticoid therapy
German, A., Suraiya, S., Tenenbaum-Rakover, Y., Koren, I., Pillar, G., & Hochberg, Z. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-0519 · Cited by 57 · see citing works
Ovarian `Tumor' of the Adrenogenital Syndrome
Al‐Ahmadie, H. A., Stanek, J. W., LIU, J. H., Mangu, P. N., Niemann, T., & Young, R. H. (2001) · The American Journal of Surgical Pathology · doi:10.1097/00000478-200111000-00015 · Cited by 55 · see citing works
Outcome of bilateral adrenalectomy in congenital adrenal hyperplasia: one unit’s experience
Ogilvie, C. M., Rumsby, G., Kurzawinski, T., & Conway, G. S. (2006) · European Journal of Endocrinology · doi:10.1530/eje.1.02096 · Cited by 55 · see citing works
Sodium chloride supplement at diagnosis and during infancy in children with salt-losing 21-hydroxylase deficiency
Mullis, P. E., Hindmarsh, P. C., & Brook, C. G. D. (1990) · European Journal of Pediatrics · doi:10.1007/bf01959473 · Cited by 53 · see citing works
High Reliability of Neonatal Screening for Congenital Adrenal Hyperplasia in Switzerland
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Cortical bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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The Effect of Therapy on Mature Height in Congenital Adrenal Hyperplasia*
Kirkland, R. T., Keenan, B. S., Holcombe, J. H., Kirkland, J. L., & CLAYTON, G. W. (1978) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-47-6-1320 · Cited by 52 · see citing works
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 50 · see citing works
Ovarian adrenal-like tissue in congenital adrenal hyperplasia
Russo, G., Paesano, P., Taccagni, G., Del Maschio, A., & Chiumello, G. (1998) · New England Journal of Medicine · doi:10.1056/nejm199809173391220 · Cited by 50 · see citing works
Pharmacologic Suppression of the Fetal Adrenal Gland In Utero
Evans, M. I. (1985) · JAMA · doi:10.1001/jama.1985.03350310097034 · Cited by 48 · see citing works
Adrenal Myelolipomas in Patients with Congenital Adrenal Hyperplasia: Review of the Literature and A Case Report
German-Mena, E., Zibari, G. B., & Levine, S. N. (2011) · Endocrine Practice · doi:10.4158/ep10340.ra · Cited by 46 · see citing works
Menarche and Subsequent Ovarian Function in Girls with Congenital Adrenal Hyperplasia
Hughes, I. A., & Read, G. F. (2008) · Hormone Research · doi:10.1159/000179489 · Cited by 44 · see citing works
A single amino acid residue, Ala 105, confers 16α-hydroxylase activity to human cytochrome P450 17α-hydroxylase/17,20 lyase
Swart, A. C., Storbeck, K., & Swart, P. (2010) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2009.12.014 · Cited by 44 · see citing works
Amenorrhea related to progestin excess in congenital adrenal hyperplasia.
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Prophylactic Adrenalectomy of a Three-Year-Old Girl with Congenital Adrenal Hyperplasia: Pre- and Postoperative Studies
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Growth Analysis in Patients with 21-Hydroxylase Deficiency Influence of Glucocorticoid Dosage, Age at Diagnosis, Phenotype and Genotype on Growth and Height Outcome
Grigorescu-Sido, A., Bettendorf, M., Schulze, E., Duncea, I., & Heinrich, U. (2003) · Hormone Research in Paediatrics · doi:10.1159/000071876 · Cited by 42 · see citing works
Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia
Cavarzere, P., Samara‐Boustani, D., Flechtner, I., Déchaux, M., Elie, C., Tardy, V., Morel, Y., & Polak, M. (2009) · European Journal of Endocrinology · doi:10.1530/eje-09-0145 · Cited by 40 · see citing works
Pituitary-ovarian responses to leuprolide acetate testing in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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Giant Bilateral Myelolipomas in a Man with Congenital Adrenal Hyperplasia
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Plasma 17-Ketosteroids and Testosterone in Prepubertal Children Before and After ACTH Administration1
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Dexamethasone treatment for congenital adrenal hyperplasia.
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Congenital adrenal hyperplasia in adults
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Self-citation
Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X)
Parajes, S., Chan, A. O., But, W. M., Rose, I., TAYLOR, A. E. R., Dhir, V., Arlt, W., & Krone, N. P. (2012) · European Journal of Endocrinology · doi:10.1530/eje-12-0450 · Cited by 30 · see citing works
Prenatal treatment of congenital adrenal hyperplasia-not standard of care
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Fertility and Body Composition after Laparoscopic Bilateral Adrenalectomy in a 30-Year-Old Female with Congenital Adrenal Hyperplasia
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Pharmacologic suppression of the fetal adrenal gland in utero
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Bilateral Ovary Adrenal Rest Tumor in a Congenital Adrenal Hyperplasia Following Adrenalectomy
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EFFECTS OF LONG TERM DEXAMETHASONE TREATMENT IN ADULT PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA
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Technical Advances Power Neuroscience
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Genotyping Is a Valuable Diagnostic Complement to Neonatal Screening for Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency1
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11-Oxygenated androgens in health and disease
Turcu, A. F., Rege, J., Auchus, R. J., & Rainey, W. E. (2020) · Nature Reviews Endocrinology · doi:10.1038/s41574-020-0336-x · Cited by 217 · see citing works
Self-citation
Intracrine androgen biosynthesis, metabolism and action revisited
Schiffer, L., Arlt, W., & Storbeck, K.-H. (2018) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2017.08.016 · Cited by 217 · see citing works
Testicular Adrenal Rest Tumors: Current Insights on Prevalence, Characteristics, Origin, and Treatment
Engels, M., Span, P. N., van Herwaarden, A. E., Sweep, F. C. G. J., Stikkelbroeck, N. M. M. L., & Claahsen-van der Grinten, H. L. (2019) · Endocrine Reviews · doi:10.1210/er.2018-00258 · Cited by 163 · see citing works
MANAGEMENT OF ENDOCRINE DISEASE: diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency
Nordenström, A., & Falhammar, H. (2019) · European Journal of Endocrinology · doi:10.1530/eje-18-0712 · Cited by 158 · see citing works
A new dawn for androgens: novel lessons from 11-oxygenated C19 steroids
Pretorius, E., Arlt, W., & Storbeck, K.-H. (2017) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2016.08.014 · Cited by 142 · see citing works
Clinical significance of 11-oxygenated androgens
Turcu, A. F., & Auchus, R. J. (2017) · Current Opinion in Endocrinology, Diabetes & Obesity · doi:10.1097/med.0000000000000334 · Cited by 80 · see citing works
Self-citation
Monogenic disorders of adrenal steroidogenesis
Baranowski, E. S., Arlt, W., & Idkowiak, J. (2018) · Hormone Research in Paediatrics · doi:10.1159/000488034 · Cited by 79 · see citing works
Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency
Al Alawi, A. M., Nordenström, A., & Falhammar, H. (2019) · Endocrine · doi:10.1007/s12020-018-01835-3 · Cited by 77 · see citing works
Health status in 1040 adults with disorders of sex development (DSD): a European multicenter study
Falhammar, H., der Grinten, H. L. C., Reisch, N., Słowikowska‐Hilczer, J., Nordenström, A., Roehle, R., Bouvattier, C. M., Kreukels, B. P. C., Köhler, B., & _, _. (2018) · Endocrine Connections · doi:10.1530/ec-18-0031 · Cited by 77 · see citing works
GC/MS in recent years has defined the Normal and clinically disordered steroidome: will It Soon Be surpassed by LC/Tandem MS in this role?
Shackleton, C., Pozo, O. J., & Marcos, J. (2018) · Journal of the Endocrine Society · doi:10.1210/js.2018-00135 · Cited by 75 · see citing works
Phase 3 Trial of Crinecerfont in Adult Congenital Adrenal Hyperplasia
Auchus, R. J., Hamidi, O., Pivonello, R., Bancos, I., Russo, G., Witchel, S. F., Isidori, A. M., Rodien, P., Srirangalingam, U., Kiefer, F. W., et al. (2024) · New England Journal of Medicine · doi:10.1056/nejmoa2404656 · Cited by 70 · see citing works
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Molecular Characterization of XX Maleness
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Male Hypogonadism and Disorders of Sex Development
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Phase 3 Trial of Crinecerfont in Pediatric Congenital Adrenal Hyperplasia
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Management of the female with non-classical congenital adrenal hyperplasia (NCCAH): a patient-oriented approach
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Crinecerfont Lowers Elevated Hormone Markers in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia
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The role of miRNAs in regulating adrenal and gonadal steroidogenesis
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Nonclassic Congenital Adrenal Hyperplasia
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Is There a Role for Genomics in the Management of Hypertension?
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The interplay between stress, circadian clocks, and energy metabolism
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Steroid biomarkers in human adrenal disease
Rege, J., Turcu, A. F., Else, T., Auchus, R. J., & Rainey, W. E. (2019) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2019.01.018 · Cited by 46 · see citing works
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The rate of change in declining steroid hormones: a new parameter of healthy aging in men?
Walther, A., Philipp, M., Lozza, N., & Ehlert, U. (2016) · Oncotarget · doi:10.18632/oncotarget.11752 · Cited by 40 · see citing works
Puberty
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Challenges in treatment of patients with non-classic congenital adrenal hyperplasia
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Assisted Reproduction in Congenital Adrenal Hyperplasia
Chatziaggelou, A., Sakkas, E. G., Votino, R., Papagianni, M., & Mastorakos, G. P. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00723 · Cited by 35 · see citing works
Current and Novel Treatment Strategies in Children with Congenital Adrenal Hyperplasia
Nordenström, A., Falhammar, H., & Lajić, S. (2022) · Hormone Research in Paediatrics · doi:10.1159/000522260 · Cited by 35 · see citing works
Early Feminizing Genitoplasty in Girls with Congenital Adrenal Hyperplasia (CAH)—Analysis of Unified Surgical Management
Kudela, G., Gawlik, A., & Koszutski, T. (2020) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph17113852 · Cited by 33 · see citing works
Heterogeneity, dynamics and organelle interactions of lipid droplets
Henne, W. M., & Cohen, S. (2026) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-025-00945-x · Cited by 32 · see citing works
Update on adrenal steroid hormone biosynthesis and clinical implications
Bacila, I. A., Elder, C. J., & Krone, N. P. (2019) · Archives of Disease in Childhood · doi:10.1136/archdischild-2017-313873 · Cited by 30 · see citing works
Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency
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Normal male external genitalia do not rule out CYP11A1 deficiency
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CYP17A1 exhibits 17αhydroxylase/17,20-lyase activity towards 11β-hydroxyprogesterone and 11-ketoprogesterone metabolites in the C11-oxy backdoor pathway
van Rooyen, D., Yadav, R., Scott, E. E., & Swart, A. C. (2020) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2020.105614 · Cited by 25 · see citing works
The intracellular cholesterol pool in steroidogenic cells plays a role in basal steroidogenesis
Bassi, G., Sidhu, S. K., & Mishra, S. (2022) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2022.106099 · Cited by 25 · see citing works
Effects of adrenal androgens during the prenatal period on the second to fourth digit ratio in school-aged children
Mitsui, T., Araki, A., Goudarzi, H., Miyashita, C., Ito, S., Sasaki, S., Kitta, T., Moriya, K., Cho, K., Morioka, K., et al. (2016) · Steroids · doi:10.1016/j.steroids.2016.06.009 · Cited by 25 · see citing works
Tetragonia tetragonioides (Pall.) Kuntze Regulates Androgen Production in a Letrozole-Induced Polycystic Ovary Syndrome Model
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Corticosteroid-Binding Globulin is expressed in the adrenal gland and its absence impairs corticosterone synthesis and secretion in a sex-dependent manner
Gulfo, J., Castel, R., Ledda, A., Romero, M. D. M., Esteve, M., & Grasa, M. (2019) · Scientific Reports · doi:10.1038/s41598-019-50355-1 · Cited by 23 · see citing works
Pregnancy, delivery and neonatal outcomes among women with congenital adrenal hyperplasia: a study of a large US database
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Salivary Profiles of 11-Oxygenated Androgens Follow a Diurnal Rhythm in Patients With Congenital Adrenal Hyperplasia
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24-Hour Profiles of 11-Oxygenated C19 Steroids and Δ5-Steroid Sulfates during Oral and Continuous Subcutaneous Glucocorticoids in 21-Hydroxylase Deficiency
Turcu, A. F., Mallappa, A., Nella, A. A., Chen, X., Zhao, L., Nanba, A. T., Byrd, J. B., Auchus, R. J., & Merke, D. P. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.751191 · Cited by 20 · see citing works
“Congenital adrenal hyperplasia (CAH) is a set of autosomal recessive defects in cortisol biosynthesis, and of these, 21hydroxylase deficiency (21OHD) represents the most common form (1, 2).”
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Congenital Adrenal Hyperplasia
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Making the Case for Autophagy Inhibition as a Therapeutic Strategy in Combination with Androgen-Targeted Therapies in Prostate Cancer
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Posaconazole-Induced Adrenal Insufficiency in a Case of Chronic Myelomonocytic Leukemia
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Non-Classical Congenital Adrenal Hyperplasia-Causing Alleles in Adolescent Girls with PCOS and in Risk Group for PCOS Development
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Abiraterone and Galeterone, Powerful Tools Against Prostate Cancer: Present and Perspective
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Single-cell atlas of murine adrenal glands reveals immune-adrenal crosstalk during systemic Candida albicans infection
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Predictors of Cardiovascular Morbidities in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia
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Novel regulation mechanism of adrenal cortisol and DHEA biosynthesis via the endogen ERAD inhibitor small VCP-interacting protein
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Current Advances in the Management of Congenital Adrenal Hyperplasia
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The impact of neonatal 17-hydroxyprogesterone cutoff determination in a public newborn screening program for congenital adrenal hyperplasia in Southern Brazil: 3 years’ experience
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Congenital adrenal hyperplasia is a very rare cause of adrenal incidentalomas in Sweden
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Treatment patterns and unmet needs in adults with classic congenital adrenal hyperplasia: A modified Delphi consensus study
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Beyond oestrogens: towards a broader evaluation of the hormone profile in pulmonary arterial hypertension
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Early Castration in Horses Does Not Impact Osteoarticular Metabolism
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The Cycle Characteristics and Outcomes of Infertile Nonclassic 21-Hydroxylase Deficiency Patients Undergoing Ovarian Stimulation for In Vitro Fertilization
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Adrenal, Gonadal and Peripherally Steroid Changes in Response to Extreme Physical Stress for Characterizing Load Capacity in Athletes
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Xiao-Chai-Hu Decoction Ameliorates Poly (I:C)-Induced Viral Pneumonia through Inhibiting Inflammatory Response and Modulating Serum Metabolism
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Multiplexed Serum Steroid Profiling Reveals Metabolic Signatures of Subtypes in Congenital Adrenal Hyperplasia
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Successful live birth in women with partial 17α-hydroxylase deficiency: report of two cases
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Non-classical animal models for studying adrenal diseases: advantages, limitations, and implications for research
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Estrogen-secreting testicular tumors in 46,XY female patients with 17α-hydroxylase/17,20-lyase deficiency: two unusual case reports and a review of the literature
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11-deoxycortisol positively correlates with T cell immune traits in physiological conditions
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Case report: Clitoromegaly as a consequence of Congenital Adrenal Hyperplasia. An accurate medical and surgical approach
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CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica
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Distinct adrenal gland macrophages regulate corticosteroid productionPreprint
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Prevalence and Clinical Management of Adrenal Tumour-Related Hyperandrogenism: A Narrative Review
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Association Between the Polymorphism of Steroid Hormone Metabolism Genes and High-Altitude Pulmonary Edema in the Chinese Han Population
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A 5-Week-Old Boy with Failure to Thrive, Marked Hyperkalemia, and Hyponatremia
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Therapeutic management of congenital forms of endocrine hypertension
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Authors: Turcu, A. F., & Auchus, R. J.
Affiliations: University of Michigan (US)
Corresponding author: Auchus, Richard J.
ORCID: Turcu, Adina F.
Auchus, Richard J.
Venue: Endocrinology and Metabolism Clinics of North America
Publisher: Elsevier BV
Published: 2015-06
Volume: 44
Issue: 2
Pages: 275-296
ISSN: 0889-8529 (ISSN-L)
DOI: 10.1016/j.ecl.2015.02.002
PMC: PMC4506691
OpenAlex: W1958109677
Cited by: 177
References: 155
Citations by year: 2026: 14 · 2025: 15 · 2024: 20 · 2023: 19 · 2022: 23 · 2021: 12 · 2020: 17 · 2019: 19 · 2018: 18 · 2017: 8 · 2016: 10 · 2015: 1
FWCI: 1.20
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
Locations: Endocrinology and Metabolism Clinics of North America (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: National Institute of Diabetes and Digestive and Kidney Diseases (F32DK103461)
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 › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
Keywords: adrenal steroidogenesis, congenital adrenal hyperplasia, 21-hydroxylase deficiency, aldosterone, cortisol, dehydroepiandrosterone, adrenal androgens, mineralocorticoids, glucocorticoids, ACTH, cholesterol
MeSH terms: Adrenal Cortex Neoplasms, Adrenal Hyperplasia, Congenital, Aldosterone, Androgens, Dehydroepiandrosterone, Glucocorticoids, Humans, Hydrocortisone, Mineralocorticoids, Risk Factors, Myelolipoma, Adrenocortical Adenoma, Dehydroepiandrosterone Sulfate, Hormone Replacement Therapy

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Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia

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