Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency (Q34246296)

31 July 2017

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title

Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency (English)

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congenital adrenal hyperplasia

31 July 2017

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Pang S

1

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31 July 2017

1 March 2001

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Endocrinology and Metabolism Clinics of North America

31 July 2017

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31 July 2017

30

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31 July 2017

1

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31 July 2017

81-99, vi-vii

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Mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene in a patient with classic salt-wasting 3 beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia

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Absence of molecular defect in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene in premature pubarche children and hirsute female patients with moderately decreased adrenal 3 beta-HSD activity

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3 beta-hydroxysteroid isomerase dehydrogenase in guinea-pig kidney: possible involvement in 11-deoxycorticosterone formation in situ

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Characterization, expression, and immunohistochemical localization of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase in human skin

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Analysis of membrane and surface protein sequences with the hydrophobic moment plot

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Secondary biosynthetic defects in women with late-onset congenital adrenal hyperplasia

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Plasma and urinary steroids in an eight-year-old boy with 3-beta-hydxysteroid dehydrogenase deficiency

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A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency

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Delta4-3 beta-hydroxysteroid dehydrogenase activity in rat liver. Intracellular distribution and sex dependency

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Structural analysis of the gene encoding human 3 beta-hydroxysteroid dehydrogenase/delta 5----4-isomerase

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Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene

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Male pseudohermaphroditism due to nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency: gender role change and absence of gynecomastia at puberty

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Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females

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Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls

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Genotyping of the type II 3β-hydroxysteroid dehydrogenase gene (HSD3B2) in women with hirsutism and elevated ACTH-stimulated δ5-steroids

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New Insight into the Molecular Basis of 3 -Hydroxysteroid Dehydrogenase Deficiency: Identification of Eight Mutations in the HSD3B2 Gene in Eleven Patients from Seven New Families and Comparison of the Functional Properties of Twenty-Five Mutant Enzy

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Nonsalt-Losing Congenital Adrenal Hyperplasia due to 3β-Hydroxysteroid Dehydrogenase Deficiency with Normal Glomerulosa Function*

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Late-onset adrenal steroid 3 beta-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and postpubertal women

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Congenital adrenal hyperplasia

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Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human adrenals and gonads

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Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene

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Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency

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Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency: alteration of the putative NAD-binding domain of type II 3 beta-HSD.

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Pubertal Presentation of Congenital Δ5–-3β–Hydroxysteroid Dehydrogenase Deficiency*

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Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss

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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 with nonsalt-losing 3 beta HSD deficiency

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Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia.

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Persistent testicular delta5-isomerase-3beta-hydroxysteroid dehydrogenase (delta5-3beta-HSD) deficiency in the delta5-3beta-HSD form of congenital adrenal hyperplasia

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Molecular basis of congenital adrenal hyperplasia due to 3 beta- hydroxysteroid dehydrogenase deficiency

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Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273 delta AA in type II 3 beta-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin

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Molecular analysis of type II 3 beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 beta-hydroxysteroid dehydrogenase deficiency

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Genetic defects of steroidogenesis in premature pubarche

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3&beta;-Hydroxysteroid Dehydrogenase Deficiency Follow-Up Study in a Girl with Pubertal Bone Age

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Human placental 3 beta-hydroxy-5-ene-steroid dehydrogenase and steroid 5----4-ene-isomerase: purification from microsomes, substrate kinetics, and inhibition by product steroids

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Identifiers

DOI

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31 July 2017

1 reference

PubMed ID

11344940