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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제26권 제1호
- 발행연도
- 2021.1
- 수록면
- 66 - 70 (5page)
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초록· 키워드
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17α-hydroxylase/17,20-lyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by diverse phenotypes resulting from specific mutations. Here, we report 2 phenotypic females with 17α-hydroxylase/17,20-lyase deficiency: one with the 46,XX karyotype presenting primary amenorrhea and sexual infantilism, and the other with the 46,XY karyotype presenting a disorder of sexual development. In both cases, the serum levels of adrenocorticotropic hormone, 11-deoxycorticosterone, and gonadotropin were elevated, whereas the levels of testosterone and dehydroepiandrosterone were reduced. Next-generation sequencing revealed one patient with compound heterozygosity for p.Trp17Ter (c.51G>A) and p.His373Leu (c.1118A>T), and the other with homozygosity for p.His373Leu (c.1118A>T). This report further describes 2 cases of 17α-hydroxylase/17,20-lyase deficiency in patients who harbored a p.His373Leu substitution, commonly found in Korean individuals, and presented diverse phenotypes.
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등록된 정보가 없습니다.
참고문헌 (16)
참고문헌 신청
Turcu AF / 2015 / Adrenal steroidogenesis and congenital adrenal hyperplasia / Endocrinol Metab Clin North Am 44:275~296
Oh YK / 2012 / 17alpha-hydroxlyase/17, 20-lyase deficiency in three siblings with primary amenorrhea and absence of secondary sexual development / J Pediatr Adolesc Gynecol 25:e103~e105
El-Mauche D AW / 2017 / Congenital adrenal hyperplasia / Lancet 390:2194~2210
Richards S / 2015 / Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology / Genet Med 17:405~424
Miller WL / 2018 / Mechanisms in endocrinology : rare defects in adrenal steroidogenesis / Eur J Endocrinol 179:R125~R141
Oh YK / 2012 / 17alpha-hydroxlyase/17, 20-lyase deficiency in three siblings with primary amenorrhea and absence of secondary sexual development / J Pediatr Adolesc Gynecol 25:e103~e105
El-Mauche D AW / 2017 / Congenital adrenal hyperplasia / Lancet 390:2194~2210
Richards S / 2015 / Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology / Genet Med 17:405~424
Miller WL / 2018 / Mechanisms in endocrinology : rare defects in adrenal steroidogenesis / Eur J Endocrinol 179:R125~R141
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