A Case of 5 alpha-reductase Deficiency in Infancy.
- Author:
IL Tae WHANG
;
Ho Seong KIM
- Publication Type:Case Report
- Keywords:
Ambiguous genitalia;
Infancy;
5 alpha-reductase deficiency
- MeSH:
46, XY Disorders of Sex Development;
Cholestenone 5 alpha-Reductase*;
Disorders of Sex Development;
Plasma;
Rare Diseases;
Scrotum;
Testis;
Tetrahydrocortisol
- From:Journal of Korean Society of Pediatric Endocrinology
1998;3(1):96-101
- CountryRepublic of Korea
- Language:Korean
-
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.
