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KMID : 0648420080130020184
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Journal of Korean Society of Pediatric Endocrinology
2008 Volume.13 No. 2 p.184 ~ p.187
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Disorder of Sex Development with 5alpha-reductase Deficiency in Identical Twins
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Lee Sang-Taek
Sung Ki-Hye
Byun Jung-Lim
Yun Yeo-Min
Chung So-Chung
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Abstract
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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.
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KEYWORD
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5 alpha-reductase Deficiency, Pseudohermaphroditism, Identical twins
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