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Ann Pediatr Endocrinol Metab > Volume 13(2); 2008 > Article
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.
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
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