5α-reductase 결핍증으로 진단된 쌍생아에서 발생한 성발달 장애
Disorder of Sex Development with 5α-reductase Deficiency in Identical Twins
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초록
5α-reductase 결핍증은 상염색체 열성으로 유전되며 이 효소의 결핍으로 T이 DHT으로 전환이 비정상적으로 낮아지므로 외부생식기의 남성화가 완전하게 이루어지지 않아 신생아 시기에 애매모호한 성기로 나타나는 성발달 장애이다. 저자들은 애매모호한 성기를 주소로 내원한 일란성 쌍생아에서 5α-reductase 결핍증으로 진단된 성발달 장애를 경험하였기에 보고하는 바이다.
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. 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.
참고문헌 (12)
- Moon H.W., "Causes and clinical charateristics of patients with abnormal sex differentiation and development", Korean J Lab Med, 24, pp.183~188 (2004)
- Opitz J.M., "Pseudovaginal perineoscrotal hypospadias", Clin Genet, 3, pp.1~26 (1972)
- Walsh P.C., "Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias", N Engl J Med, 291, pp.944~949 (1974)
- Whang I.T., "A Case of 5 alpha-reductase Deficiency in Infancy", J Korean Soc Pediatr Endocrinol, 3(1), pp.96~101 (1998)
- Migeon C.J., "Human sex differentiation and its abnormalities", Best Pract Res Clin Obstet Gynaecol, 17, pp.1~18 (2003)
- Low Y., "Murdoch Childrens Reserach Institute Sex Study Group Rules for clinical diagnosis in babies with ambigous genitalia", J Paediatr Child Health, 39, pp.406~413 (2003)
- Geroge F.W., "Embryology of the genital tract,Cambell's Urology", pp.1496~1508 (1992), Philadelphia: WB Saunders Co
- Ferraz L.F., "New frameshift mutation in the 5α-reductase type 2 gene in a Brazilian patient with 5α-reductase deficiency", Am J Med Genet, 87, pp.221~225 (1999)
- Korean Society of Pediatric Endocrinology, "Pediatric endocrinology", pp.235,405~237,406 (2004), Seoul: Kwangmoon Publishing Co
- Choi J.H., "Molecular analysis of the AR and SRD5A2 genes in patients with male pseudohermaphroditism", pp.11~34 (2006), Ulsan: Univ. of Ulsan College of Medicine
- Kim S.H., "A novel frameshift mutation in the 5α-reductase type 2 gene in Korean sisters with male pseudohermaphroditism", Fertil Steril, 85(750), pp.e9-750~e12 (2006)
- Labrie F., "Structure of human type II 5a-reductase gene", Endocrinology, 131, pp.1571~1573 (1992)