Adrenal Hyperplasia, Congenital, Due To 21-hydroxylase Deficiency

Description

Congenital adrenal hyperplasia (CAH) results from a deficiency in one or another of the enzymes of cortisol biosynthesis. In about 95% of cases, 21-hydroxylation is impaired in the zona fasciculata of the adrenal cortex so that 17-hydroxyprogesterone (17-OHP) is not converted to 11-deoxycortisol. Because of defective cortisol synthesis, ACTH levels increase, resulting in overproduction and accumulation of cortisol precursors, particularly 17-OHP, proximal to the block. This causes excessive production of androgens, resulting in virilization.Slominski et al. (1996) presented evidence that the CYP21A2, CYP11A1 (OMIM ), CYP17 (OMIM ), and ACTHR (OMIM ) genes are expressed in skin (see {202200}). The authors suggested that expression of these genes may play a role in skin physiology and pathology and that cutaneous proopiomelanocortin activity may be autoregulated by a feedback mechanism involving glucocorticoids synthesized locally.

Clinical Features

Top most frequent phenotypes and symptoms related to Adrenal Hyperplasia, Congenital, Due To 21-hydroxylase Deficiency

  • Short stature
  • Neoplasm
  • Hypertension
  • Fever
  • Obesity
  • Hypospadias
  • Osteopenia
  • Hypoglycemia
  • Carcinoma
  • Infertility

And another 26 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including adult onset .

Alternative names

Adrenal Hyperplasia, Congenital, Due To 21-hydroxylase Deficiency Is also known as cyp21 deficiency, 21-hydroxylase deficiency, congenital adrenal hyperplasia 1, cah1, adrenal hyperplasia iii.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Adrenal Hyperplasia, Congenital, Due To 21-hydroxylase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CYP21A2 (CAH) Evaluation.

By Athena Diagnostics Inc (United States).

CYP21A2
Specificity
100 %
Genes
100 %
Congenital Adrenal Hyperplasia (CAH) Evaluation.

By Athena Diagnostics Inc (United States).

CYP11B1, CYP21A2
Specificity
50 %
Genes
100 %
CYP21A2 Deletion Test.

By Athena Diagnostics Inc (United States).

CYP21A2
Specificity
100 %
Genes
100 %
CYP21A2 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

CYP21A2
Specificity
100 %
Genes
100 %
Congenital Adrenal Hyperplasia (CAH).

By Center for Genetics at Saint Francis Saint Francis Hospital (United States).

CYP21A2
Specificity
100 %
Genes
100 %
CYP21A2 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

CYP21A2
Specificity
100 %
Genes
100 %
21-hydroxlase deficiency associated Congenital Adrenal Hyperplasia.

By Alberta Children's Hospital Molecular Diagnostic Laboratory Alberta Children's Hospital (Canada).

CYP21A2
Specificity
100 %
Genes
100 %
CYP21A2.

By Department of Medical Genetics - Wuyts Lab Antwerp University Hospital (Belgium).

CYP21A2
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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