Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal)

A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.

Also Known As:

Networked: 2841 relevant articles (47 outcomes, 178 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Virilism (Virilization)
2.	Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
3.	Neoplasms (Cancer)
4.	Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
5.	Hirsutism

Experts

1.	Merke, Deborah P: 60 articles (12/2022 - 02/2002)
2.	New, Maria I: 41 articles (01/2019 - 02/2002)
3.	Nordenström, Anna: 39 articles (12/2022 - 11/2002)
4.	Arlt, Wiebke: 34 articles (12/2022 - 06/2004)
5.	Falhammar, Henrik: 34 articles (12/2022 - 01/2007)
6.	Krone, Nils: 31 articles (12/2022 - 06/2002)
7.	Lajic, Svetlana: 27 articles (03/2022 - 11/2004)
8.	Auchus, Richard J: 25 articles (12/2022 - 01/2008)
9.	Reisch, Nicole: 25 articles (12/2022 - 08/2009)
10.	Hindmarsh, Peter C: 21 articles (01/2022 - 05/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital Adrenal Hyperplasia:

1.	SteroidsIBA 12/01/2017 - "The statistically significant differences in steroid production of ACC vs ACA, adrenal vs pituitary CS, and in congenital adrenal hyperplasia should allow for improved diagnosis of patients with these diseases." 06/01/2017 - "In congenital adrenal hyperplasia, emerging steroids that might be helpful in the near future for diagnostic purposes are discussed. " 10/29/2016 - "Extra-adrenal induction of Cyp21a1 ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasia." 03/01/2004 - "Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry." 03/01/2013 - "The aim of this study was to determine bone mineral density (BMD), markers of bone metabolism, fractures, and steroids reflecting hormonal control in adult males with congenital adrenal hyperplasia (CAH). "
2.	17-alpha-Hydroxyprogesterone (17 Hydroxyprogesterone)IBA 11/01/2012 - "Patients with congenital adrenal hyperplasia had significantly greater levels of basal and peak 17-hydroxyprogesterone than those with isolated premature adrenarche (p < 0.001). " 01/01/2014 - "Newborn screening for congenital adrenal hyperplasia (CAH) based on measuring 17-hydroxyprogesterone (17-OHP) by immunoassay generates a number of false-positive results, especially in preterm neonates. " 01/01/1997 - "Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels." 01/01/2017 - "This study explored whether using the suggested diagnostic serum basal level of 17-hydroxyprogesterone (6.0 nmol/L) would lead to underdiagnosis of nonclassical congenital adrenal hyperplasia. " 11/01/2014 - "(1) Thirty-four patients were diagnosed with nonclassical-congenital adrenal hyperplasia (NC-CAH) based on the 17-hydroxyprogesterone (17-OHP) levels and the presence of two mutations in CYP21A2 and therefore were excluded from the study, 66 were found to be heterozygotes and finally 105 had no identifiable mutations. "
3.	GlucocorticoidsIBA 03/01/2013 - "What is the best approach to the teenage patient presenting with nonclassical congenital adrenal hyperplasia: should we always treat with glucocorticoids?" 06/01/1976 - "Variable efficacy of glucocorticoids in congenital adrenal hyperplasia." 03/01/2015 - "Prior studies reveal that bone mineral density (BMD) in congenital adrenal hyperplasia (CAH) is mostly in the osteopaenic range and is associated with lifetime glucocorticoid dose. " 11/01/2000 - "To study bone mass, body composition and androgenic/anabolic activity in adult women with virilizing congenital adrenal hyperplasia (CAH) treated with glucocorticoids since infancy and to relate this to the postmenarcheal glucocorticoid impact. " 01/01/2023 - "Children with congenital adrenal hyperplasia (CAH) are treated with glucocorticoids. "
4.	Dexamethasone (Maxidex)FDA LinkGeneric 05/01/2013 - "Prenatal treatment of congenital adrenal hyperplasia by administering dexamethasone to a woman presumed to be carrying an at-risk fetus has been described as safe and effective in several reports. " 02/15/1985 - "This study demonstrates prolonged suppression of the fetal adrenal gland with dexamethasone and suggests it might prevent abnormal masculinization in fetuses with severe congenital adrenal hyperplasia." 04/01/2023 - "An update on the long-term outcomes of prenatal dexamethasone treatment in congenital adrenal hyperplasia." 12/17/2022 - "Prenatal Dexamethasone Treatment of Congenital Adrenal Hyperplasia: Are We Any Closer to Considering It Safe?" 01/01/2020 - "To assess the efficacy and safety of prenatal dexamethasone treatment in offspring at risk for congenital adrenal hyperplasia. "
5.	Hydrocortisone (Cortisol)FDA LinkGeneric 08/01/2004 - "Stress dose of hydrocortisone is not beneficial in patients with classic congenital adrenal hyperplasia undergoing short-term, high-intensity exercise." 10/01/2018 - "In a phase 2 short-term (6 months) study of patients with congenital adrenal hyperplasia (CAH), continuous subcutaneous hydrocortisone infusion (CSHI) was found to be a safe, effective and well-tolerated method of replacing cortisol with improved disease and patient-related outcomes. " 12/01/2016 - "A Phase 2 Study of Continuous Subcutaneous Hydrocortisone Infusion in Adults With Congenital Adrenal Hyperplasia." 03/01/2015 - "A phase 2 study of Chronocort, a modified-release formulation of hydrocortisone, in the treatment of adults with classic congenital adrenal hyperplasia." 01/01/2011 - "This is a case report study of a young man with Congenital Adrenal Hyperplasia (CAH) who has been treated during 2 years by a subcutaneous continuous infusion hydrocortisone (SCIH) to optimize his treatment. "
6.	Steroid 21-Hydroxylase (21 Hydroxylase)IBA 10/01/2006 - "Congenital adrenal hyperplasia with 21-hydroxylase defect appears to be the most frequent cause, but the neonatal screening has improved its potential severe outcome. " 04/01/1992 - "We present an improved method for the prenatal diagnosis of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. " 08/01/2002 - "This study addresses the contributions of gene conversion and a founder effect to the distribution of the two most frequent severe point mutations of the 21-hydroxylase (21OH) gene causing congenital adrenal hyperplasia: the 655G splicing mutation at intron 2, and Gln318Stop in a Spanish population. " 10/04/1997 - "[Characterization of steroid 21-hydroxylase gene mutations in a oligosymptomatic form of congenital adrenal hyperplasia: family study]." 10/01/1994 - "The aim of this study was to evaluate 21-hydroxylase activity in patients with an incidentally discovered adrenal mass ('incidentaloma') without a history of congenital adrenal hyperplasia. "
7.	AndrogensIBA 11/01/2010 - "Overproduction of adrenal androgens in congenital adrenal hyperplasia (CAH) leads to marked changes in bone growth and development with early growth acceleration but ultimately a significant reduction in final adult height. " 01/01/2023 - "Studies have shown that 11-oxygenated androgens are elevated in untreated patients and that the adrenal steroidogenesis backdoor pathway is more active in babies with congenital adrenal hyperplasia. " 01/01/2023 - "Indeed, the greatest evidence for organizational effects on sex differences in human behavior comes from studies of females with congenital adrenal hyperplasia (CAH), who have heightened prenatal androgen exposure, female-typical rearing, and masculinized toy play, activity and career interests, spatial skills, and some personal characteristics. " 06/01/2021 - "Studies of females with congenital adrenal hyperplasia (CAH) show how prenatal androgens affect behavior across the life span, with large effects on gendered activity interests and engagement, moderate effects on spatial abilities, and relatively small (or no) effects on gender identity, gender cognitions, and gendered peer involvement. " 01/01/2021 - "Study 1 investigated these outcomes for 43 girls and 38 boys, aged 4 to 11 years, with congenital adrenal hyperplasia (CAH, a genetic condition causing increased adrenal androgen production beginning prenatally) compared to similarly-aged, unaffected relatives (41 girls, 31 boys). "
8.	Adrenocorticotropic Hormone (ACTH)FDA Link 02/01/1992 - "To determine whether any clinical parameters are helpful in distinguishing which children should undergo further evaluation for mild congenital adrenal hyperplasia, we performed ACTH stimulation tests in 69 children with premature pubarche and 8 pubertal controls. " 07/01/2003 - "The aim of the study was to compare the response between the standard and low dose adrenocorticotropin (ACTH) test for patients with congenital adrenal hyperplasia (CAH). " 12/01/1989 - "Congenital adrenal hyperplasia family studies using the short ACTH test." 02/01/2022 - "Testicular adrenal rest cell tumours (TART) are rare benign adrenocorticotropic hormone-dependent testicular tumours, which can develop in patients with congenital adrenal hyperplasia. " 01/01/2021 - "The trophic effect of ACTH provokes congenital adrenal hyperplasia (CAH). "
9.	SaltsIBA 02/01/2012 - "Neonatal screening for congenital adrenal hyperplasia due to 21-OHD is mainly intended to prevent death due to salt wasting but remains controversial because of the number of false-positive results and the ease with which most female cases can be identified by virilized genitalia at birth. " 01/01/2021 - "Forty-three patients (58.1% male, 41.9% prepubertal) included in the study, whose median age was 9.18 (0.61-19) years, and the most common diagnosis among the patients was a salt-wasting form of congenital adrenal hyperplasia (67.4%). " 07/01/2008 - "Here we report for the first time the results of the molecular study of 17 unrelated patients with salt-wasting (SW) congenital adrenal hyperplasia (CAH) belonging to a Sicilian ethnic group, as corroborated by patients' pedigree taken to include 2 generations in the paternal and maternal lineage. " 01/01/2005 - "Testicular adrenal rest tumours in salt wasting congenital adrenal hyperplasia (in vivo and in vitro studies)." 01/01/2000 - "Studies which evaluate the psychosocial development and integration of adult female congenital adrenal hyperplasia (CAH) patients are rare but show that patients with the salt wasting form are significantly more virilized and more frequently single and childless. "
10.	Testosterone (Sustanon)FDA Link 12/01/2016 - "The first study examined autistic traits in young children with congenital adrenal hyperplasia (CAH), a condition causing unusually high concentrations of testosterone prenatally in girls. " 05/01/2009 - "We tested this hypothesis in a 15O-H2O positron emission tomography study of 11 women with congenital adrenal hyperplasia (CAH), a condition with high fetal testosterone, and 26 controls. " 06/01/2006 - "This study examined the hypothesis that autistic traits are increased following prenatal exposure to abnormally high levels of testosterone caused by congenital adrenal hyperplasia (CAH). " 07/01/1999 - "Bloodspot testosterone assay suitable for study of neonates and monitoring of children with congenital adrenal hyperplasia." 01/01/1982 - "A detailed study involving simultaneous measurements of plasma and saliva 17OH-progesterone (17OHP), and plasma testosterone concentrations was performed at frequent intervals over a 3-year period in 16 patients with congenital adrenal hyperplasia (CAH). "

Therapies and Procedures

1.	Therapeutics 08/01/2010 - "Clinical parameters such as growth velocity and bone age remain the gold standard for monitoring the adequacy of therapy in congenital adrenal hyperplasia. " 01/01/2001 - "Rather than pursuing alternate therapies for congenital adrenal hyperplasia, efforts may instead be focused on early detection and improved compliance with traditional medical therapy." 12/01/2013 - "No clinical trials have compared various regimens for classic congenital adrenal hyperplasia in adults, thus therapy is individualised and based on the prevention of adverse outcomes. " 03/10/2023 - "Models of Congenital Adrenal Hyperplasia for Gene Therapies Testing." 11/01/2022 - "Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry."
2.	Adrenalectomy 11/01/2000 - "Bilateral laparoscopic adrenalectomy: a new treatment for difficult cases of congenital adrenal hyperplasia." 11/09/2000 - "In three patients with congenital adrenal hyperplasia who had undergone bilateral adrenalectomy, the formation of the adrenal medulla was incomplete, and electron-microscopical studies revealed a depletion of secretory vesicles in chromaffin cells. " 11/01/2000 - "Study of three patients with congenital adrenal hyperplasia treated by bilateral adrenalectomy." 10/01/1997 - "Prophylactic adrenalectomy of a three-year-old girl with congenital adrenal hyperplasia: pre- and postoperative studies." 01/01/2018 - "Bilateral Adrenalectomy in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis."
3.	Hormone Replacement Therapy (Therapy, Hormone Replacement) 05/01/2008 - "The result from the salivary 17OHP measurement in patients with congenital adrenal hyperplasia demonstrated that the proposed method is very useful for monitoring of the therapeutic efficacy during hormone replacement therapy." 05/01/2008 - "Liquid chromatography-tandem mass spectrometric method for determination of salivary 17alpha-hydroxyprogesterone: a noninvasive tool for evaluating efficacy of hormone replacement therapy in congenital adrenal hyperplasia." 08/22/2023 - "Monitoring of hormone replacement therapy represents a major challenge in the management of congenital adrenal hyperplasia (CAH). " 01/01/2023 - "After the introduction of life-saving hormone replacement therapy in the 1950s and neonatal screening programmes in many countries, nowadays neonatal survival rates in patients with congenital adrenal hyperplasia are high. " 07/01/2013 - "The antiepileptic drug carbamazepine can cause adrenal insufficiency in patients under hormone replacement therapy for congenital adrenal hyperplasia."
4.	Kidney Transplantation 08/01/2012 - "Congenital adrenal hyperplasia: a rare cause of renal failure and a successful renal transplantation." 08/01/2012 - "While early treatment to prevent hypertension is mandatory in patients with congenital adrenal hyperplasia, once renal failure occurs, renal transplantation may the best choice of treatment. "
5.	Castration 01/01/2010 - "We present the outcomes of one of the largest series specifically of laparoscopic hysterosalpingectomy with bilateral gonadectomy in 46,XX patients with congenital adrenal hyperplasia raised as a male. " 06/01/2022 - "The aim of this study was to assess the prevalence of ovarian and paraovarian adrenal rest tumors (ARTs) in gonadectomy materials of a subgroup of congenital adrenal hyperplasia (CAH) patients. " 06/01/2022 - "Ovarian and paraovarian adrenal rest tumors are not uncommon in gonadectomy materials of historical congenital adrenal hyperplasia cases in childhood." 10/01/2019 - "Some patient advocates have proposed a delayed approach to surgical reconstructions and/or gonadectomy in other differences/disorders of sex development (DSD), particularly in patients with congenital adrenal hyperplasia and androgen insensitivity syndrome. " 04/01/2002 - "Investigations revealed 28 patients with congenital adrenal hyperplasia, 14 dysgenetic male pseudohermaphroditism, ten true hermaphroditism, six partial androgen insensitivity, four castration and one epispadias. "