Adrenal Hyperplasia, Congenital, Due To Steroid 11-beta-hydroxylase Deficiency

Description

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension. The defect causes decreased synthesis of cortisol and corticosterone in the zona fasciculata of the adrenal gland, resulting in accumulation of the precursors 11-deoxycortisol and 11-deoxycorticosterone; the latter is a potent salt-retaining mineralocorticoid that leads to arterial hypertension (White et al., 1991).CAH due to 11-beta-hydroxylase deficiency accounts for approximately 5 to 8% of all CAH cases; approximately 90% of cases are caused by 21-hydroxylase deficiency (OMIM ) (White et al., 1991).

Clinical Features

Top most frequent phenotypes and symptoms related to Adrenal Hyperplasia, Congenital, Due To Steroid 11-beta-hydroxylase Deficiency

  • Short stature
  • Hypertension
  • Hypospadias
  • Decreased testicular size
  • Hyperpigmentation of the skin
  • Gynecomastia
  • Accelerated skeletal maturation
  • Abnormality of the urinary system
  • Hypokalemia
  • Precocious puberty

And another 13 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.)
No data available about the known clinical features onset.

Alternative names

Adrenal Hyperplasia, Congenital, Due To Steroid 11-beta-hydroxylase Deficiency Is also known as p450c11b1 deficiency, adrenal hyperplasia iv, steroid 11-beta-hydroxylase deficiency, 11-beta-hydroxylase deficiency, adrenal hyperplasia, hypertensive form.

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 Steroid 11-beta-hydroxylase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
CYP11B1 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CYP11B1
Specificity
100 %
Genes
100 %
CYP11B1 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CYP11B1
Specificity
100 %
Genes
100 %
CYP11B1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CYP11B1
Specificity
100 %
Genes
100 %
CYP11B1 (CAH) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

CYP11B1
Specificity
100 %
Genes
100 %
Congenital Adrenal Hyperplasia (CAH) Evaluation.

By Athena Diagnostics Inc (United States).

CYP11B1, CYP21A2
Specificity
50 %
Genes
100 %
CYP11B1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

CYP11B1
Specificity
100 %
Genes
100 %
Monogenic Hypertension Evaluation.

By Athena Diagnostics Inc (United States).

SCNN1B, SCNN1G, CYP11B1, HSD11B2
Specificity
25 %
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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