Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites

High frequency of nonclassical steroid 21-hydroxylase deficiency

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Nonclassical 21-Hydroxylase Deficiency

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High frequency of nonclassical steroid 21-hydroxylase deficiency.

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Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry

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The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens

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Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis

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Reference Values for Urinary Steroids in Japanese Newborn Infants: Gas Chromatography/Mass Spectrometry in Selected Ion Monitoring

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Genetic variation in human P450 oxidoreductase

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Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency

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Elevated Urine Pregnanetriolone Definitively Establishes the Diagnosis of Classical 21-Hydroxylase Deficiency in Term and Preterm Neonates

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Clinical Course of Patients with Nonclassical 21-hydroxylase Deficiency (21-OHD) Diagnosed in Infancy and Childhood

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Urinary steroid profiling: a powerful method for the diagnosis of abnormal steroidogenesis

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Genotyping Is a Valuable Diagnostic Complement to Neonatal Screening for Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency¹

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Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

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Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)

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Multiples of Median-Transformed, Normalized Reference Ranges of Steroid Profiling Data Independent of Age, Sex, and Units

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Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype

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Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

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Turning the spotlight on the C11-oxy androgens in human fetal development

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Multiple sclerosis lesions exhibit sex-specific steroid changes

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High-dose fludrocortisone therapy was transiently required in a female neonate with 21-hydroxylase deficiency

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Urine Steroid Profiles Using GC-MS

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Hypergonadism

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Two-Step Biochemical Differential Diagnosis of Classic 21-Hydroxylase Deficiency and Cytochrome P450 Oxidoreductase Deficiency in Japanese Infants by GC-MS Measurement of Urinary Pregnanetriolone/ Tetrahydroxycortisone Ratio and 11β-Hydroxyandrosterone

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The diagnosis of 21-hydroxylase deficiency in a prematurely born infant on the basis of the urinary steroid excretion pattern

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Elevated Urine Pregnanetriolone Definitively Establishes the Diagnosis of Classical 21-Hydroxylase Deficiency in Term and Preterm Neonates

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