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

摘要: 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 testosterone to dihydrotestosterone (DHT) ratio of 40, markedly elevated value suggestive deficient steroid 5 alpha-reductase activity. The diagnosis deficiency was confirmed by urinary beta/5 alpha-steroid metabolite ratios demonstration defective activity cultured fibroblasts from the patient's scrotum foreskin. Application DHT cream abdomen raised circulating levels adult range. Two courses given nightly for 3 4 resulted phallic enlargement. Surgical release repair have normal appearance genitalia. This case illustrates heterogeneity phenotype.