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Variable Expression of 5-Reductase Deficiency: Presentation with Male Phenotype in a Child of Greek Origin^*

Departments of Pediatrics (Endocrinology) and Urology, Yale University School of Medicine New Haven, Connecticut 06510
The Department of Medicine (Endocrinology), Cornell University School Medicine New York, New York 10021
The Children’s Hospital Medical Center of Northern California, Oakland, California 94609
The Department of Internal Medicine, University of Texas, Southwestern Medical Center Dallas, Texas 75235

Address all correspondence and requests for reprints to: Dr. Thomas O. Carpenter, Yale University School of Medicine, P.O. Box 3333, Cedar Street, New Haven, Connecticut 06510.

A male infant with perineal hypospadias and a small phallus bound in chordee is described. Biochemical investigation at age 9 months after hCG stimulation revealed a testosterone to dihydrotestosterone (DHT) ratio of 40, a markedly elevated value suggestive of deficient steroid 5-reductase activity. The diagnosis of 5-reductase deficiency was confirmed by elevated urinary 5β/5-steroid metabolite ratios and demonstration of defective 5-reductase activity in cultured fibroblasts from the patient’s scrotum and foreskin. Application of DHT cream to the patient’s abdomen raised circulating levels of DHT to the adult male range. Two courses of DHT given nightly for 3 and 4 months resulted in phallic enlargement. Surgical release of the chordee and hypospadias repair have resulted in normal male appearance of the genitalia. This case illustrates the heterogeneity of the 5-reductase deficiency phenotype.

^* This work was supported in part by grants DK 03892, DK 34400, AM1749, and RR125 from the National Institutes of Health.

Received December 4, 1989.

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