Decreased 3 alpha-androstanediol glucuronide levels in plasma and random urines in male pseudohermaphroditism caused by 5 alpha-reductase deficiency.
Concentrations of 3 alpha-diol glucuronide (3 alpha-diol G) in plasma and/or random urine samples were determined in seven subjects with familial male pseudohermaphroditism (FMP) due to 5 alpha-reductase deficiency (5 alpha-RD). All subjects were natives of an isolated Turkish village with a high incidence of consanguineous marriage. A specific and sensitive antibody to 3 alpha-diol was used for radioimmunoassay of 3 alpha-diol G after hydrolysis and chromatographic purification. The mean plasma 3 alpha-diol G in three subjects (31 ng/dL) was much lower than the normal male concentration (516 +/- 50) (+/- SE) and was even lower than normal female values (119 +/- 10.9 ng/dL). In five subjects, mean urinary 3 alpha-diol G in random urine samples was 7.6 (range 2.1 to 12.7) ng/mg creatinine. This was considerably decreased compared with the mean adult male concentration of 65.4 +/- 9.4 and even lower than normal age-matched nonhirsute female values (19.6 +/- 2.1 ng/mg Cr). To validate the use of 3 alpha-diol G/creatinine ratios in random urine samples, correlations of three consecutive eight-hour samples with 24-hour values were determined in 8 male and 3 female age-matched controls. There was an excellent correlation (r = .95) and the linear regression line (y = 0.51x + 2.58) indicates that the 24-hour excretion of 3 alpha-diol G in microgram/24 h is approximately twice the random urinary concentration in ng/mg Cr.(ABSTRACT TRUNCATED AT 250 WORDS)
Ertel
N H
NH
Medical Service, Veterans Administration Medical Center, East Orange, NJ 07019.
Akgun
S
S
Samojlik
E
E
Kirschner
M A
MA
Imperato-McGinley
J
J
D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency*; D000293:Adolescent; D000328:Adult; D015113:Androstane-3,17-diol / Q000031:analogs & derivatives / Q000097:blood / Q000378:metabolism* / Q000652:urine; D000732:Androstanols / Q000378:metabolism*; D012734:Disorders of Sex Development / Q000097:blood / Q000235:genetics / Q000378:metabolism* / Q000652:urine; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011863:Radioimmunoassay; D012016:Reference Values; D014421:Turkey
D000732:Androstanols; D015113:Androstane-3,17-diol; C028895:androstane-3,17-diol glucuronide; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase