Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase deficiency
The 3β-hydroxysteroid dehydrogenase/Δ 5-Δ 4 isomerase (3β-HSD) isoenzymes are
responsible for the oxidation and isomerization of Δ 5-3β-hydroxysteroid precursors into Δ 4 …
responsible for the oxidation and isomerization of Δ 5-3β-hydroxysteroid precursors into Δ 4 …
A new insight into the molecular basis of 3β-hydroxysteroid dehydrogenase deficiency
J Simard, ML Ricketts, AM Moisan, V Tardy… - Endocrine …, 2000 - Taylor & Francis
Classical 3β-hydroxysteroid dehydrogenase/5–4 isomerase (3β-HSD) deficiency is a rare
form of congenital adrenal hyperplasia that impairs steroidogenesis in both the adrenals and …
form of congenital adrenal hyperplasia that impairs steroidogenesis in both the adrenals and …
New Insight into the Molecular Basis of 3β-Hydroxysteroid Dehydrogenase Deficiency: Identification of Eight Mutations in the HSD3B2 Gene in Eleven Patients from …
AM Moisan, ML Ricketts, V Tardy… - The Journal of …, 1999 - academic.oup.com
Classical 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase (3βHSD) deficiency is a form
of congenital adrenal hyperplasia that impairs steroidogenesis in both the adrenals and …
of congenital adrenal hyperplasia that impairs steroidogenesis in both the adrenals and …
Molecular Biology of the 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4 Isomerase Gene Family
The 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase (3β-HSD) isoenzymes are
responsible for the oxidation and isomerization of Δ5-3β-hydroxysteroid precursors into Δ4 …
responsible for the oxidation and isomerization of Δ5-3β-hydroxysteroid precursors into Δ4 …
Structure of the Human Type II 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4 Isomerase (3β-HSD) Gene: Adrenal and Gonadal Specificity
Y LACHANCE, VAN LUU-THE, H VERREAULT… - DNA and cell …, 1991 - liebertpub.com
While classical 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase deficiency (3β-HSD) is
a known cause of adrenal hyperplasia resulting in ambiguous genitalia and adrenal …
a known cause of adrenal hyperplasia resulting in ambiguous genitalia and adrenal …
Carboxyl-terminal mutations in 3β-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia
M Welzel, N Wustemann… - The Journal of …, 2008 - academic.oup.com
Abstract Introduction: 3β-Hydroxysteroid dehydrogenase (3β-HSD) deficiency is a rare
cause of congenital adrenal hyperplasia caused by inactivating mutations in the HSD3B2 …
cause of congenital adrenal hyperplasia caused by inactivating mutations in the HSD3B2 …
Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient …
R Sanchez, E Rheaume, N Laflamme… - The Journal of …, 1994 - academic.oup.com
Three beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase (3 beta HSD)
deficiency is a form of congenital adrenal hyperplasia characterized by severe impairment of …
deficiency is a form of congenital adrenal hyperplasia characterized by severe impairment of …
Congenital adrenal hyperplasia due to point mutations in the type II 3β–hydroxysteroid dehydrogenase gene
Classical 3β–hydroxysteroid dehydrogenase/Δ5–Δ4–isomerase (3β–HSD) deficiency is an
autosomal recessive form of congenital adrenal hyperplasia characterized by a severe …
autosomal recessive form of congenital adrenal hyperplasia characterized by a severe …
Male psuedohermaphroditism caused by nonsalt-losing congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency
UE Heinrich, M Bettendorf, P Vecsei - The Journal of Steroid Biochemistry …, 1993 - Elsevier
We observed a boy with ambiguous genitalia and normal testes. Steroid analyses performed
during newborn age surprisingly were inconclusive basally and after hCG stimulation, but …
during newborn age surprisingly were inconclusive basally and after hCG stimulation, but …
A Novel Missense Mutation in the HSD3B2 Gene, Underlying Nonsalt-Wasting Congenital Adrenal Hyperplasia. New Insight Into the Structure-Function Relationships …
MS Baquedano, M Ciaccio, R Marino… - The Journal of …, 2015 - academic.oup.com
Context: 3βHSD2 is a bifunctional microsomal NAD+-dependent enzyme crucial for adrenal
and gonad steroid biosynthesis, converting Δ5-steroids to Δ4-steroids. 3βHSD2 deficiency is …
and gonad steroid biosynthesis, converting Δ5-steroids to Δ4-steroids. 3βHSD2 deficiency is …