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.

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Networked: 2083 relevant articles (28 outcomes, 141 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Neoplasms (Cancer)
2.	Hirsutism
3.	Infertility (Sterility)
4.	Hyperandrogenism
5.	Acne Vulgaris

Experts

1.	New, Maria I: 36 articles (06/2014 - 02/2002)
2.	Merke, Deborah P: 34 articles (12/2015 - 02/2002)
3.	Nordenström, Anna: 21 articles (11/2015 - 11/2002)
4.	Krone, Nils: 18 articles (11/2013 - 06/2002)
5.	Falhammar, Henrik: 16 articles (11/2015 - 01/2007)
6.	Arlt, Wiebke: 16 articles (03/2015 - 06/2004)
7.	Wedell, Anna: 15 articles (11/2015 - 06/2002)
8.	Nimkarn, Saroj: 15 articles (05/2014 - 08/2006)
9.	Lee, Hsien-Hsiung: 15 articles (01/2014 - 01/2002)
10.	Auchus, Richard J: 14 articles (09/2015 - 02/2008)

Drugs and Biologics

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

1.	Steroid 21-Hydroxylase (21 Hydroxylase)IBA 04/01/1993 - "Prenatal diagnosis of 21-hydroxylase deficiency, the most common cause of congenital adrenal hyperplasia (CAH), has benefited from the advances in endocrinologic and molecular genetic studies. " 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. " 01/22/1987 - "Our experience indicates that improved surgical correction of the external genitalia and better compliance with therapy will be necessary to improve fertility rates among women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency." 09/01/2001 - "Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency." 04/01/1992 - "We present an improved method for the prenatal diagnosis of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. "
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." 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. " 01/01/2008 - "This study investigated the use of corrected 17-alpha-hydroxyprogesterone (17-OHP) values to detect congenital adrenal hyperplasia (CAH) in newborn infants. "
3.	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. " 01/01/2013 - "We report 2 patients with congenital adrenal hyperplasia (CAH) due to 21-OHD who were treated prenatally with dexamethasone, suffered from an acute encephalopathy and showed focal and multifocal cortical and subcortical diffusion restrictions in early MRI and signs of permanent alterations in the follow-up neuroimaging studies. " 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." 06/01/2015 - "Prenatal treatment of congenital adrenal hyperplasia by administering dexamethasone to a woman presumed to be carrying an at-risk fetus remains a controversial experimental treatment. " 10/01/2014 - "To describe the action of prenatal dexamethasone (PreDex) on the anatomy of female congenital adrenal hyperplasia (CAH) genitalia when started at later stages of gestation. "
4.	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." 04/01/2015 - "The Endocrine Society Clinical Practice Guidelines on congenital adrenal hyperplasia (CAH) recommend against using hydrocortisone suspension based on a study that examined a commercial suspension. " 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." 05/01/2013 - "In this study, 27 adolescents with Congenital Adrenal Hyperplasia (CAH, mean age 15.6 years, 12 female), a disorder of cortisol deficiency and androgen excess, and 36 healthy participants (mean age 16.3 years, 18 female) completed a reward-based antisaccade task. " 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. "
5.	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. " 07/01/2015 - "The aim of the current study was to investigate potential cross-gender identification in girls exposed prenatally to high concentrations of androgens due to classical congenital adrenal hyperplasia (CAH). " 06/01/2012 - "Studies of genetic females with congenital adrenal hyperplasia (CAH), in which high prenatal androgens have been linked to both atypical genitals and "masculine" patterns of gender and sexuality, are particularly important. " 02/01/2008 - "In humans, spatial ability is also sexually dimorphic, and information about the effects of prenatal androgens on spatial ability can be obtained from studies of congenital adrenal hyperplasia (CAH) and the ratio of the second and fourth finger lengths (2D:4D). " 02/01/2008 - "Spatial ability and prenatal androgens: meta-analyses of congenital adrenal hyperplasia and digit ratio (2D:4D) studies."
6.	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." 01/01/2015 - "Testicular adrenal rest tumours (TARTs) are benign ACTH-dependent tumours that occur in males with congenital adrenal hyperplasia (CAH) and if left untreated can destroy testicular tissue. " 12/01/2003 - "Extremely high levels of basal serum 17alpha-hydroxyprogesterone as well as an exaggerated response of 17alpha-hydroxyprogesterone to adrenocorticotropic hormone confirmed congenital adrenal hyperplasia at 7 years of age. "
7.	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." 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. " 09/01/2015 - "Congenital adrenal hyperplasia (CAH) is lethal in its most severe forms if not treated with glucocorticoids. " 02/01/2015 - "PATIENTS with classic congenital adrenal hyperplasia (CAH) are treated with lifelong glucocorticoids (GCs). "
8.	Steroid 11-beta-Hydroxylase (11 beta-Hydroxylase)IBA 08/01/1996 - "This case illustrates difficulties in correct diagnosis, choice of appropriate steroid regimen and monitoring efficacy of treatment in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. " 11/10/2012 - "The objective of this study was to screen the CYP11B1 gene for mutations in one Vietnamese male suffering from congenital adrenal hyperplasia. " 09/01/2009 - "The objective of the study was to screen the CYP11B1 gene for mutations in two unrelated Brazilian females with congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. " 04/01/1985 - "Studies in three families (A, B, and C) revealed five patients with congenital adrenal hyperplasia (CAH) due to partial and combined 21- and 11 beta-hydroxylase deficiency. " 01/01/1982 - "Studies in 18 Jewish families from Morocco, Tunis, Turkey and Iran revealed 26 patients with congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. "
9.	Testosterone (Sustanon)FDA Link 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 - "The bloodspot testosterone assay can be applied to the study of androgen physiology in preterm neonates as well as for monitoring treatment in disorders such as congenital adrenal hyperplasia." 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). "
10.	SteroidsIBA 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). " 10/01/2013 - "She was taking steroids after being misdiagnosed as congenital adrenal hyperplasia (CAH). " 01/15/2013 - "Congenital adrenal hyperplasia (CAH) is a group of autosomal recessively inherited disorders characterized by impaired production of adrenal steroids. " 04/01/2012 - "[Determination of serum steroids in monitoring therapy of congenital adrenal hyperplasia]." 11/20/2011 - "An automated method on analysis of blood steroids using liquid chromatography tandem mass spectrometry: application to population screening for congenital adrenal hyperplasia in newborns."

Therapies and Procedures

1.	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." 01/01/2013 - "Ectopic adrenal rests in congenital adrenal hyperplasia as a cause of androgen excess after adrenalectomy detected by pelvic venous sampling."
2.	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." 07/01/2013 - "The antiepileptic drug carbamazepine can cause adrenal insufficiency in patients under hormone replacement therapy for congenital adrenal hyperplasia."
3.	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. "
4.	Transplantation (Transplant Recipients) 01/01/2006 - "Limited results in children and adolescents with congenital adrenal hyperplasia and chronic primary hypothyroidism have also shown increased growth rates, while no growth benefit was seen in pediatric renal transplant recipients.GnRH analogs also have potential as gonadoprotective agents; studies of GnRH agonists used alone and in combination with GnRH antagonists in women undergoing cytotoxic therapy have shown increased preservation of reproductive potential in patients who were receiving GnRH analog therapy versus those who were not.The"
5.	Surgical Instruments (Clip) 04/01/2001 - "In ACTH hypersecretory syndromes, of tumoural (Cushing's disease, ectopic ACTH secretion) or non-tumoural (Addison's disease, congenital adrenal hyperplasia) origins a good agreement between the two assays was observed except for very high ACTH plasma values (above 1000 pg/ml) and in some tumours where the sACTH IRMA yielded lower results; in some cases, the presence of circulating CLIP, demonstrated by HPLC studies, may contribute to this discrepancy. "