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
|
| 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
|
| Concept/Terms |
Adrenal Hyperplasia, Congenital- Adrenal Hyperplasia, Congenital
- Congenital Adrenal Hyperplasia
- Adrenal Hyperplasias, Congenital
- Congenital Adrenal Hyperplasias
- Hyperplasias, Congenital Adrenal
- Hyperplasia, Congenital Adrenal
|
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,
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1999 | 5 | 0 | 5 |
| 2001 | 1 | 0 | 1 |
| 2004 | 3 | 0 | 3 |
| 2005 | 3 | 0 | 3 |
| 2006 | 2 | 0 | 2 |
| 2007 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Adrenal Hyperplasia, Congenital" by people in Profiles.
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Hirsutism in Women. Am Fam Physician. 2019 08 01; 100(3):168-175.
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Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia. J Steroid Biochem Mol Biol. 2017 01; 165(Pt A):51-56.
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Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Proc Natl Acad Sci U S A. 2013 Feb 12; 110(7):2611-6.
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CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children. J Clin Res Pediatr Endocrinol. 2009; 1(3):116-28.
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Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Mol Genet Metab. 2007 Apr; 90(4):414-21.
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Aldosterone-to-renin ratio as a marker for disease severity in 21-hydroxylase deficiency congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2007 Jan; 92(1):137-42.
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Two novel mutations found in a patient with 17alpha-hydroxylase enzyme deficiency. J Clin Endocrinol Metab. 2006 Oct; 91(10):4179-82.
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Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency). J Mol Diagn. 2005 May; 7(2):236-46.
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The natural history and genotype-phenotype nonconcordance of HLA identical siblings with the same mutations of the 21-hydroxylase gene. J Pediatr Endocrinol Metab. 2005 Feb; 18(2):143-53.
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Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. J Pediatr Endocrinol Metab. 2005 Feb; 18(2):133-42.