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J Korean Soc Pediatr Endocrinol Search


Ann Pediatr Endocrinol Metab > Volume 3(1); 1998 > Article
A Case of 5 alpha-reductase Deficiency in Infancy.
IL Tae Whang, Ho Seong Kim
5 alpha-reductase deficiency resulting in male pseudohermaphroditism is a rare disease characterized by clitoral-like phallus, bifid scrotum, urogenital sinus, testis cited in labioscrotal folds. Evaluation of plasma T/DHT ratios in infancy, particularly after hCG stimulation of the testes and elevated urinary tetrahydrocortisol (THF) to 5 alpha-tetrahydrocortisol(5 alpha-THF) ratios provide a valuable dianostic test for 5 alpha-reductase deficiency. We report one case of 5 alpha-reductase deficiency who were presented with ambiguous genitalia and elevated T/DHT ratio before and after hCG stimulation.
Keywords: Ambiguous genitalia;Infancy;5 alpha-reductase deficiency


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