J Korean Soc Pediatr Endocrinol.  1998 May;3(1):96-101.

A Case of 5 alpha-reductase Deficiency in Infancy

• Whang IT
• Kim HS

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.

Keyword

Ambiguous genitalia; Infancy; 5 alpha-reductase deficiency

MeSH Terms

46, XY Disorders of Sex Development
Cholestenone 5 alpha-Reductase*
Disorders of Sex Development
Plasma
Rare Diseases
Scrotum
Testis
Tetrahydrocortisol
Cholestenone 5 alpha-Reductase
Tetrahydrocortisol