Case Report
J Korean Soc Pediatr Endocrinol. 1998; 3(1): 96-101.
A Case of 5 alpha-reductase Deficiency in Infancy.
ABSTRACT
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
