J Korean Soc Pediatr Endocrinol.
2008 Dec;13(2):184-187.
Disorder of Sex Development with 5alpha-reductase Deficiency in Identical Twins
- Affiliations
-
- 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.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- A Case of Pseudovaginal Perineoscrotal Hypospadias with 5alpha-reductase Deficiency
- 5alpha-Reductase
- A Novel Mutation of the Steroid 5-Alpha Reductase Type 2 (SRD5A2) Gene in a Korean Newborn with Ambiguous Genitalia
- A Case of 5 alpha-reductase Deficiency in Infancy
- A case of 5 alpha reductase deficiency
