Premium
URINARY STEROID METABOLITES IN SUBJECTS WITH MALE PSEUDOHERMAPHRODITISM DUE TO 5α‐REDUCTASE DEFICIENCY
Author(s) -
PETERSON R. E.,
IMPERATOMcGINLEY JULIANNE,
GAUTIER T.,
SHACKLETON C.
Publication year - 1985
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/j.1365-2265.1985.tb00181.x
Subject(s) - male pseudohermaphroditism , endocrinology , medicine , androstenedione , urinary system , metabolite , alpha (finance) , steroid , chemistry , testosterone (patch) , biology , androgen , hormone , construct validity , nursing , patient satisfaction
To investigate the enzymatic basis for abnormal steroid metabolism in subjects with male pseudohermaphroditism due to 5α‐reductase deficiency, the ring A reduced urinary 5β and 5α metabolites of testosterone, androstenedione, 11β‐hydroxyandrostenedione, cortisol and corticosterone were measured by gas chromatography. Assays of the four pairs of urinary 5β and 5α steroid metabolites revealed decreased conversion of the parent steroids to 5α‐reduced urinary metabolites, with increased 5β to 5α urinary steroid metabolite ratios. These studies establish that increased urinary 5β/5α ratios are distinctive for this disorder, and represent the most reliable method for confirming the diagnosis of primary inherited 5α‐reductase deficiency. These data also suggest that the conversion on the many Δ 4 ‐3 ketosteroids to 5α‐reduced steroids may be due to a single enzyme with broad specificity, or multiple enzyme reductases with a common regulator.