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The Diagnosis of 5-Reductase Deficiency in Infancy^*

Division of Endocrinology and Metabolism New York Hospital-Cornell Medical Center, New York, New York 10021; the National University Pedro Henriquez Urena, Robert Reid Cabral Hospital Santo Domingo, Dominican Republic; the Research Department,Children's Hospital, Medical Center of Northern California Oakland, California 94609

Address requests for reprints to: Dr. Julianne Imperato-McGinley, Division of Endocrinology and Metabolism, Cornell University Medical College, 1300 York Avenue, Room A-328, New York, New York 10021.

The diagnosis of 5-reductase deficiency in infancy is reported for the first time in three male pseudohermaphrodites from the Dominican Republic. Basal plasma testosterone to dihydrotestosterone ratios were significantly elevated in two of the three affected infants, and increased markedly in all three infants ater administration of hCG. Since urinary etiocholanolone¹ to androsterone ratios could not be determined accurately in this age group, the diagnosis of 5reductase deficiency was confirmed by the finding of elevated urinary tetrahydrocortisol (THF) to 5-tetrahydrocortisol (5- THF) ratios, as determined by gas chromatography/mass spectrometry, in the affected male infants compared to those in agematched normal infants. The THF/-THF ratios, however, were lower in both the normal children and the affected infants, compared to those in older children and adults from both groups, suggesting increased 5-reductase activity in infancy. The affected infants had THF/5-THF ratios comparable to ratios in adult carrier males and significantly lower than ratios in adult homozygotes. Two of the three affected infants are related to he large Dominican kindred we studied previously and initially were raised as females but, after parental counseling, were changed to a male sex of rearing. (J Clin Endocrinol Metab63: 1313,1986)

^* This work was supported by NIH Grants HD-9421, AM-33459, and RR-1614.

¹ The following trivial names are used: etiocholanolone (E), 3hydroxy- 5β-androstan-17-one; androsterone (A) 3-hydroxy-5androstane- 17-one; tetrahydrocorticosterone (THB), ,llβ,21-trihydroxy- 5β-pregnan-20-one; allotetrahydrocorticosterone (5β-THB), 3,llβ,21-trihydroxy-5-pregnan-20-one; tetrahydrocortisol (THF), 3,llβ,17,21-tetranydroxy-5β-pregnan-20-one; allotetrahydrocortisone (3-THF), 3,llβ,17,21-tetrahydroxy-3-pregnan-20-one; 110- hydroxyetiocholanolone (110HE), 3, 1 l/3-dihydroxy-5β-androstan-17- one; llβ-hydroxyandrosterone (110HA), 3,llβ-dihydroxy-5-androstan- 17-one.

Received April 21, 1986.

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