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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
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- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제13권 제2호
- 발행연도
- 2008.1
- 수록면
- 184 - 187 (4page)
이용수
초록· 키워드
오류제보하기
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. 5α-reductase deficiency is a rare autosomal recessive disorder of sex development caused by a mutation of the 5α-reductase type 2 gene. As a result, there is an abnormality in conversion of testosterone (T) to dihydrotestosterone (DHT) and children with 5α-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 5α-reductase deficiency.
목차
등록된 정보가 없습니다.
참고문헌 (12)
참고문헌 신청
Choi J.H. / 2006 / Molecular analysis of the AR and SRD5A2 genes in patients with male pseudohermaphroditism / Ulsan: Univ. of Ulsan College of Medicine : 11 ~ 34
Ferraz L.F. / 1999 / New frameshift mutation in the 5α-reductase type 2 gene in a Brazilian patient with 5α-reductase deficiency / Am J Med Genet 87 : 221 ~ 225
Geroge F.W. / 1992 / Embryology of the genital tract,Cambell's Urology / Philadelphia: WB Saunders Co : 1496 ~ 1508
Kim S.H. / 2006 / A novel frameshift mutation in the 5α-reductase type 2 gene in Korean sisters with male pseudohermaphroditism / Fertil Steril 85 (750) : e9-750 ~ e12
Korean Society of Pediatric Endocrinology / 2004 / Pediatric endocrinology / Seoul: Kwangmoon Publishing Co : 235,405 ~ 237,406
Ferraz L.F. / 1999 / New frameshift mutation in the 5α-reductase type 2 gene in a Brazilian patient with 5α-reductase deficiency / Am J Med Genet 87 : 221 ~ 225
Geroge F.W. / 1992 / Embryology of the genital tract,Cambell's Urology / Philadelphia: WB Saunders Co : 1496 ~ 1508
Kim S.H. / 2006 / A novel frameshift mutation in the 5α-reductase type 2 gene in Korean sisters with male pseudohermaphroditism / Fertil Steril 85 (750) : e9-750 ~ e12
Korean Society of Pediatric Endocrinology / 2004 / Pediatric endocrinology / Seoul: Kwangmoon Publishing Co : 235,405 ~ 237,406
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