Disorder of Sex Development with 5alpha-reductase Deficiency in Identical Twins.
- Author:
Sang Taek LEE
1
;
Kihye SUNG
;
Jung Lim BYUN
;
Yeo Min YUN
;
So Chung CHUNG
Author Information
1. Department of Pediatrics, Konkuk University Hospital Konkuk University School of Medicine, Seoul, Korea. scchung@kuh.ac.kr
- Publication Type:Case Report
- Keywords:
5 alpha-reductase deficiency;
Pseudohermaphroditism;
Identical twins
- MeSH:
Child;
Dihydrotestosterone;
Disorders of Sex Development;
Humans;
Infant, Newborn;
Karyotype;
Parents;
Puberty;
Sexual Development;
Testosterone;
Twins, Monozygotic
- From:Journal of Korean Society of Pediatric Endocrinology
2008;13(2):184-187
- CountryRepublic of Korea
- Language:Korean
-
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.
