Congenital adrenal hypoplasia
Gene: HSD3B2Comment 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.
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
06/02/2016: Panel revised according to expert review, further curation and discussion with Clinical Geneticists at Genomics England. Ready to promote to version 1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for HSD3B2 were set to 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
This proposed gene was validated and added to this panel
Phenotypes for gene HSD3B2 were set to Adrenal hyperplasia, Congenital, Due To 3beta-Hydroxysteroid Dehydrogenase Deficiency type 2 with or without salt-loss; variabe effects on sex steroid synthesis
HSD3B2 was created by John Achermann
HSD3B2 was added to Congenital adrenal hypoplasiapanel. Sources: Expert list