THE ADRENOGENITAL SYNDROME WITH DEFICIENCY OF 3β-HYDROXYSTEROID DEHYDROGENASE*
نویسندگان
چکیده
منابع مشابه
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...
متن کاملClinical 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...
متن کاملRegulation 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 ...
متن کاملIsolation of a New Mouse 3β-Hydroxysteroid Dehydrogenase Isoform, 3β-HSD VI, Expressed During Early Pregnancy.
The enzyme 3beta-hydroxysteroid dehydrogenase (3beta-HSD) is a key enzyme in the biosynthesis of steroid hormones. To date, this laboratory has isolated and characterized five distinct 3beta-HSD complementary DNAs (cDNAs) in the mouse (3beta-HSD I through V). These different forms are expressed in a tissue- and developmentally-specific manner and fall into two functionally distinct enzymes. 3be...
متن کاملMutation of 3β-hydroxysteroid dehydrogenase (3β-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency.
In the present study, we report the mutation of the 3β-hydroxysteroid dehydrogenase (3β-HSD) gene in a family suffering from adrenocortical insufficiency. The index patient was clinically diagnosed with adrenocortical insufficiency. Peripheral venous blood (5 ml) was collected from the proband and 5 members of his family, and genomic DNA was extra...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1962
ISSN: 0021-9738
DOI: 10.1172/jci104666