| Disorder of Sex Development with 5alpha-reductase Deficiency in Identical Twins. |
|
Sang Taek Lee, Kihye Sung, Jung Lim Byun, Yeo Min Yun, So Chung Chung |
1Department of Pediatrics, Konkuk University Hospital Konkuk University School of Medicine, Seoul, Korea. scchung@kuh.ac.kr
2Department of Laboratory Medicine, Konkuk University Hospital Konkuk University School of Medicine, Seoul, Korea. |
|
|
|
|
|
|
| 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. |
| Keywords:
5 alpha-reductase deficiency;Pseudohermaphroditism;Identical twins |
|
PDF Links
Full text via DOI
Download Citation
