Urinary steroid metabolites in subjects with male pseudohermaphroditism due to 5 alpha-reductase deficiency.

Abstract

To investigate the enzymatic basis for abnormal steroid metabolism in subjects with male pseudohermaphroditism due to 5 alpha-reductase deficiency, the ring A reduced urinary 5 beta and 5 alpha metabolites of testosterone, androstenedione, 11 beta-hydroxyandrostenedione, cortisol and corticosterone were measured by gas chromatography. Assays of the four pairs of urinary 5 beta and 5 alpha steroid metabolites revealed decreased conversion of the parent steroids to 5 alpha-reduced urinary metabolites, with increased 5 beta to 5 alpha urinary steroid metabolite ratios. These studies establish that increased urinary 5 beta/5 alpha ratios are distinctive for this disorder, and represent the most reliable method for confirming the diagnosis of primary inherited 5 alpha-reductase deficiency. These data also suggest that the conversion on the many delta 4-3 ketosteroids to 5 alpha-reduced steroids may be due to a single enzyme with broad specificity, or multiple enzyme reductases with a common regulator.

• Authors: R E Peterson, J Imperato-McGinley, T Gautier, C Shackleton
• Journal: Clinical endocrinology (Clin Endocrinol (Oxf)) Vol. 23 Issue 1 Pg. 43-53 (Jul 1985) ISSN: 0300-0664 [Print] England
• PMID: 4028464 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Dihydrotestosterone
• Testosterone
• Androstenedione
• 11-hydroxyandrostenedione
• Oxidoreductases
• 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
• Corticosterone
• Hydrocortisone

Topics

• 3-Oxo-5-alpha-Steroid 4-Dehydrogenase (deficiency)
• Adolescent
• Adult
• Androstenedione (analogs & derivatives, urine)
• Child
• Child, Preschool
• Chromatography, Gas
• Corticosterone (urine)
• Dihydrotestosterone (blood)
• Disorders of Sex Development (blood, etiology, urine)
• Humans
• Hydrocortisone (urine)
• Infant
• Male
• Middle Aged
• Oxidoreductases (deficiency)
• Testosterone (blood, urine)