Adrenal Hyperplasia, Congenital, Due To 3-beta-hydroxysteroid Dehydrogenase 2 Deficiency

Description

Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization (summary by Rheaume et al., 1992).

Clinical Features

Top most frequent phenotypes and symptoms related to Adrenal Hyperplasia, Congenital, Due To 3-beta-hydroxysteroid Dehydrogenase 2 Deficiency

  • Hypospadias
  • Micropenis
  • Hirsutism
  • Amenorrhea
  • Ambiguous genitalia
  • Primary amenorrhea
  • Insulin resistance
  • Gynecomastia
  • Polycystic ovaries
  • Bifid scrotum

And another 6 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 3-beta-hydroxysteroid Dehydrogenase 2 Deficiency Is also known as adrenal hyperplasia ii, hsdb, 3-beta-hsd deficiency.

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 3-beta-hydroxysteroid Dehydrogenase 2 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 %
HSD3B2 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

HSD3B2
Specificity
100 %
Genes
100 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
HSD3B2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

HSD3B2
Specificity
100 %
Genes
100 %
3-beta-hydroxysteroid dehydrogenase deficiency type II (sequence analysis of HSD3B2 gene).

By CGC Genetics (Portugal).

HSD3B2
Specificity
100 %
Genes
100 %
Test for 3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia.

By Hehr Laboratory Center for Human Genetics - University of Regensburg (Germany).

HSD3B2
Specificity
100 %
Genes
100 %
Hypospadias Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SALL1, BMP4, BMP7, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, WDR11, ZEB2, SETBP1, TP63, PCNT, ZFPM2, UBR1, FIG4, CDKN1C, ARX , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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