Disorder of Sex Development with 5alpha-reductase Deficiency in Identical Twins / 대한소아내분비학회지
Journal of Korean Society of Pediatric Endocrinology
; : 184-187, 2008.
Article
in Korean
| WPRIM (Western Pacific)
| ID: wpr-97950
Responsible library:
WPRO
ABSTRACT
Children with abnormal sex development may present with ambiguous genitalia in the newborn period or lacking of secondary sexual characteristics in puberty. Clinicians should make a prompt and accurate diagnosis and counsel parents on therapeutic options to minimize or avoid medical and psychological complications. 5alpha-reductase deficiency is a rare autosomal recessive disorder of sex development caused by a mutation of the 5alpha-reductase type 2 gene. As a result, there is an abnormality in conversion of testosterone (T) to dihydrotestosterone (DHT) and children with 5alpha-reductase deficiency are born with ambiguous genitalia. Here, we report identical twins who presented with ambiguous genitalia with a 46,XY karyotype and were diagnosed as 5alpha-reductase deficiency.
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Parents
/
Disorders of Sex Development
/
Dihydrotestosterone
/
Testosterone
/
Twins, Monozygotic
/
Puberty
/
Sexual Development
/
Karyotype
Limits:
Child
/
Humans
/
Infant, Newborn
Language:
Korean
Journal:
Journal of Korean Society of Pediatric Endocrinology
Year:
2008
Document type:
Article