Mutations in the Type II 3β-Hydroxysteroid Dehydrogenase Gene in a Patient with Classic Salt-Wasting 3β-Hydroxysteroid Dehydrogenase Deficiency Congenital Adrenal Hyperplasia

3β-hydroxysteroid dehydrogenase type II deficiency on newborn screening test.

3β-hydroxysteroid dehydrogenase II (3β-HSD) deficiency represents a rare CAH variant. Newborns affected with its classic form have salt wasting in early infancy and genital ambiguity in both sexes. High levels of 17-hydroxypregnenolone (Δ517OHP) are characteristic, but extra-adrenal conversion to 17-hydroxyprogesterone (17OHP) may lead to positive results on newborn screening tests. Filter pape...

Clinical and molecular characterization of patients with classic 3β-hydroxysteroid dehydrogenase deficiency

Background 3b-hydroxysteroid dehydrogenase type 2 (3bHSD2) is the key enzyme converting Δ5-steroids to Δ4-ketosteroids in adrenal and gonadal steroidogenesis. Severe lossof-function mutations of HSD3B2 gene encoding for this enzyme cause the rare form of congenital adrenal hyperplasia, “3bHSD deficiency”. Affected individuals have salt losing, adrenal insufficiency and ambiguous genitalia in bo...

Phenotype & genotype of congenital adrenal hyperplasia due to mutation in the type ii 3β-hydroxysteroid dehydrogenase gene: a report of two Vietnamese families

Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It includes a group of autosomal recessive disorders caused by the deficiency of one of the enzymes involed in one of the various steps of adrenal steroid synthesis. 3b-Hydroxysteroid dehydrogenase (3b-HSD) deficiency is a rare cause of CAH caused by inactivating mutations in the HSD3B2 gene. Most muta...

Regulation of 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4 Isomerase: A Review

This review focuses on the expression and regulation of 3β-hydroxysteroid dehydrogenase/Δ⁵-Δ⁴ isomerase (3β-HSD), with emphasis on the porcine version. 3β-HSD is often associated with steroidogenesis, but its function in the metabolism of both steroids and xenobiotics is more obscure. Based on currently available literature covering humans, rodents and pigs, this review provides an overview of ...

Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase type II deficiency in 4 Saudi children. Long term follow up.