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.
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click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1994 | 1 | 0 | 1 |
| 1999 | 1 | 0 | 1 |
| 2001 | 1 | 0 | 1 |
| 2002 | 2 | 1 | 3 |
| 2011 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2020 | 0 | 1 | 1 |
| 2021 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Adrenal Hyperplasia, Congenital" by people in Profiles.
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Normal and Premature Adrenarche. Endocr Rev. 2021 11 16; 42(6):783-814.
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Fertility and sexuality issues in congenital lifelong urology patients: female aspects. World J Urol. 2021 Apr; 39(4):1021-1027.
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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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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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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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Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27; 44(7):788-92.
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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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Bilateral adrenal medullary hyperplasia associated with an SDHB mutation. J Clin Oncol. 2011 Mar 10; 29(8):e200-2.
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Psychological adjustment in children and adults with congenital adrenal hyperplasia. J Pediatr. 2004 Jun; 144(6):741-6.
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Vaginal reconstruction for ambiguous genitalia and congenital absence of the vagina: a 27-year experience. J Pediatr Surg. 2002 Jul; 37(7):955-60.