 Adrenal Hyperplasia, Congenital
"Adrenal Hyperplasia, Congenital" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D000312
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| MeSH Number(s) |
C12.706.316.129.500 C13.351.875.253.129.500 C16.131.939.316.129.500 C16.320.033 C16.320.565.925.249 C18.452.648.925.249 C19.053.440 C19.391.119.129.500
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| Concept/Terms |
Adrenal Hyperplasia, Congenital- Adrenal Hyperplasia, Congenital
- Congenital Adrenal Hyperplasia
- Adrenal Hyperplasias, Congenital
- Congenital Adrenal Hyperplasias
- Hyperplasias, Congenital Adrenal
- Hyperplasia, Congenital Adrenal
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Below are MeSH descriptors whose meaning is more general than "Adrenal Hyperplasia, Congenital".
- Diseases [C]
- Male Urogenital Diseases [C12]
- Urogenital Abnormalities [C12.706]
- Disorders of Sex Development [C12.706.316]
- Adrenogenital Syndrome [C12.706.316.129]
- Adrenal Hyperplasia, Congenital [C12.706.316.129.500]
- Female Urogenital Diseases and Pregnancy Complications [C13]
- Female Urogenital Diseases [C13.351]
- Urogenital Abnormalities [C13.351.875]
- Disorders of Sex Development [C13.351.875.253]
- Adrenogenital Syndrome [C13.351.875.253.129]
- Adrenal Hyperplasia, Congenital [C13.351.875.253.129.500]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
- Urogenital Abnormalities [C16.131.939]
- Disorders of Sex Development [C16.131.939.316]
- Adrenogenital Syndrome [C16.131.939.316.129]
- Adrenal Hyperplasia, Congenital [C16.131.939.316.129.500]
- Genetic Diseases, Inborn [C16.320]
- Adrenal Hyperplasia, Congenital [C16.320.033]
- Metabolism, Inborn Errors [C16.320.565]
- Steroid Metabolism, Inborn Errors [C16.320.565.925]
- Adrenal Hyperplasia, Congenital [C16.320.565.925.249]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Metabolism, Inborn Errors [C18.452.648]
- Steroid Metabolism, Inborn Errors [C18.452.648.925]
- Adrenal Hyperplasia, Congenital [C18.452.648.925.249]
- Endocrine System Diseases [C19]
- Adrenal Gland Diseases [C19.053]
- Adrenal Hyperplasia, Congenital [C19.053.440]
- Gonadal Disorders [C19.391]
- Disorders of Sex Development [C19.391.119]
- Adrenogenital Syndrome [C19.391.119.129]
- Adrenal Hyperplasia, Congenital [C19.391.119.129.500]
Below are MeSH descriptors whose meaning is more specific than "Adrenal Hyperplasia, Congenital".
This graph shows the total number of publications written about "Adrenal Hyperplasia, Congenital" by people in this website by year, and whether "Adrenal Hyperplasia, Congenital" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1980 | 2 | 0 | 2 | | 1983 | 0 | 1 | 1 | | 1985 | 1 | 0 | 1 | | 1986 | 0 | 1 | 1 | | 1987 | 1 | 0 | 1 | | 1990 | 1 | 0 | 1 | | 1992 | 0 | 1 | 1 | | 1994 | 1 | 0 | 1 | | 1999 | 1 | 0 | 1 | | 2002 | 2 | 1 | 3 | | 2011 | 1 | 0 | 1 | | 2012 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Adrenal Hyperplasia, Congenital" by people in Profiles.
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Merke DP, Chen W, Morissette R, Xu Z, Van Ryzin C, Sachdev V, Hannoush H, Shanbhag SM, Acevedo AT, Nishitani M, Arai AE, McDonnell NB. Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2013 Feb; 98(2):E379-87.
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Finkielstain GP, Kim MS, Sinaii N, Nishitani M, Van Ryzin C, Hill SC, Reynolds JC, Hanna RM, Merke DP. Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2012 Dec; 97(12):4429-38.
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Chen W, Xu Z, Nishitani M, Van Ryzin C, McDonnell NB, Merke DP. Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Genet. 2012 Dec; 131(12):1889-94.
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Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27; 44(7):788-92.
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Gregg B, Kociolek LK, Qin K, Rosenfield RL, Yu C. P450c17 deficiency caused by compound heterozygosity for two novel mutations presenting as hypotension in early infancy. Horm Res Paediatr. 2011; 76(6):434-41.
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Grogan RH, Pacak K, Pasche L, Huynh TT, Greco RS. Bilateral adrenal medullary hyperplasia associated with an SDHB mutation. J Clin Oncol. 2011 Mar 10; 29(8):e200-2.
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Berenbaum SA, Korman Bryk K, Duck SC, Resnick SM. Psychological adjustment in children and adults with congenital adrenal hyperplasia. J Pediatr. 2004 Jun; 144(6):741-6.
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Graziano K, Teitelbaum DH, Hirschl RB, Coran AG. Vaginal reconstruction for ambiguous genitalia and congenital absence of the vagina: a 27-year experience. J Pediatr Surg. 2002 Jul; 37(7):955-60.
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Pang S, Wang W, Rich B, David R, Chang YT, Carbunaru G, Myers SE, Howie AF, Smillie KJ, Mason JI. A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2002 Jun; 87(6):2556-63.
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Lutfallah C, Wang W, Mason JI, Chang YT, Haider A, Rich B, Castro-Magana M, Copeland KC, David R, Pang S. Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab. 2002 Jun; 87(6):2611-22.
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