Congenital adrenal hypoplasia
Gene: HSD3B2

HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2)
EnsemblGeneIds (GRCh38): ENSG00000203859
EnsemblGeneIds (GRCh37): ENSG00000203859
OMIM: 613890, Gene2Phenotype
HSD3B2 is in 2 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted to red, as it is related to adrenal hyperplasia rather than adrenal hypoplasia.
Created: 6 Feb 2017, 2:27 p.m.

Comment on list classification: >3 unrelated cases reported, and is green on the Disorders of sex development gene panel Version 1.4.
Created: 2 Feb 2017, 2:18 p.m.

Created: 2 Feb 2017, 2:18 p.m.

Panel version: 0.47

John Achermann (UCL Institute of Child Health)

Red List (low evidence)

Typically causes adrenal insufficiency as part of 3-beta hydroxysteroid dehydrogenase type 2 deficiency. Approximately 50% of children will have salt loss in addition to glucocorticoid insufficiency. Can cause mild androgenization in 46,XX infants or hypospadias in 46,XY infants. A form of congenital adrenal HYPERplasia that should be diagnosed on biochemical patterns but may be misdiagnosed as adrenal hypoplasia in rare situations, especially in girls with no clitoral enlargement.
Created: 7 Dec 2015, 2:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 7 Dec 2015, 2:55 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

Adrenal hyperplasia, Congenital, Due To 3-beta-Hydroxysteroid Dehydrogenase Deficiency type 2 with or without salt-loss
variabe effects on sex steroid synthesis
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 201810

OMIM

613890

Clinvar variants

Variants in HSD3B2

Penetrance

Complete

Panels with this gene