지원사업
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
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제23권 제3호
- 발행연도
- 2018.1
- 수록면
- 162 - 165 (4page)
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초록· 키워드
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X-linked adrenal hypoplasia congenita (AHC) is a rare disorder that usually presents clinically as adrenal insufficiency in early infancy. It is caused by mutations in the NR0B1 gene which is located on the short arm of chromosome X (Xp21). The NR0B1 gene plays an important role in normal development and function of both the adrenal and gonadal axes and some patients with the disease can present in adolescence with hypogonadotropic hypogonadism. Testicular microlithiasis is an ultrasonographic finding of unknown etiology that has been associated with several benign conditions such as cryptorchidism, congenital adrenal hyperplasia, varicoceles, and testicular malignancy. We report the case of an 11-year-old boy who was diagnosed at the age of 8 months with X-linked AHC due to adrenal failure and presented testicular microlithiasis during follow-up. To the best of our knowledge, this is the first case of an X-linked AHC patient diagnosed with testicular microlithiasis in follow-up.
목차
등록된 정보가 없습니다.
참고문헌 (19)
참고문헌 신청
Suntharalingham JP / 2015 / DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease / Best Pract Res Clin Endocrinol Metab 29:607~619
Landau Z / 2010 / Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations / Clin Endocrinol (Oxf) 72:448~454
Poyrazoglu S / 2010 / Prevalence of testicular microlithiasis in males with congenital adrenal hyperplasia and its association with testicular adrenal rest tumors / Horm Res Paediatr 73:443~448
Backus ML / 1994 / Testicular microlithiasis: imaging appearances and pathologic correlation / Radiology 192:781~785
Phelan JK / 2001 / Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita / Hum Mutat 18:472~487
Landau Z / 2010 / Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations / Clin Endocrinol (Oxf) 72:448~454
Poyrazoglu S / 2010 / Prevalence of testicular microlithiasis in males with congenital adrenal hyperplasia and its association with testicular adrenal rest tumors / Horm Res Paediatr 73:443~448
Backus ML / 1994 / Testicular microlithiasis: imaging appearances and pathologic correlation / Radiology 192:781~785
Phelan JK / 2001 / Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita / Hum Mutat 18:472~487
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