A Case of 5 alpha-reductase Deficiency in Infancy / 대한소아내분비학회지
Journal of Korean Society of Pediatric Endocrinology
;
: 96-101, 1998.
Article
in Korean
| WPRIM
| ID: wpr-125350
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Plasma
/
Scrotum
/
Disorders of Sex Development
/
Testis
/
Tetrahydrocortisol
/
Rare Diseases
/
Cholestenone 5 alpha-Reductase
/
Disorder of Sex Development, 46,XY
Language:
Korean
Journal:
Journal of Korean Society of Pediatric Endocrinology
Year:
1998
Type:
Article
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