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Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita
DC Field | Value | Language |
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dc.contributor.author | 권아름 | - |
dc.contributor.author | 김호성 | - |
dc.contributor.author | 서정환 | - |
dc.contributor.author | 송경철 | - |
dc.contributor.author | 이진성 | - |
dc.contributor.author | 채현욱 | - |
dc.contributor.author | 최한샘 | - |
dc.date.accessioned | 2021-12-28T17:20:12Z | - |
dc.date.available | 2021-12-28T17:20:12Z | - |
dc.date.issued | 2021-06 | - |
dc.identifier.issn | 2287-1012 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/187053 | - |
dc.description.abstract | X-linked adrenal hypoplasia congenita caused by a mutation in NR0B1/DAX-1 is a rare inherited disorder. Patients with adrenal hypoplasia congenita are usually diagnosed with primary adrenal insufficiency in infancy or early childhood and present hypogonadotropic hypogonadism during adolescence. Our patient first presented with adrenal crisis at the age of 2 months, which was managed with glucocorticoids and mineralocorticoids. At the age of 17 years, testicular volumes of 5 mL each and a stretched penile length of 4 cm were noted. A combined pituitary function test showed a peak luteinizing hormone level of 2.68 mIU/mL, testosterone 13.5 ng/dL, confirming hypogonadotropic hypogonadism. After whole-exome sequencing, a new variant of DAX-1, c.881T>C (p.Leu294Pro), was found. He was diagnosed with X-linked adrenal hypoplasia congenita and then treated with human choriogonadotropin for the induction of spermatogenesis as well as with steroid replacement therapy. | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.language | English | - |
dc.publisher | Korean Society of Pediatric Endocrinology | - |
dc.relation.isPartOf | ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학교실) | - |
dc.contributor.googleauthor | Han Saem Choi | - |
dc.contributor.googleauthor | Ahreum Kwon | - |
dc.contributor.googleauthor | Hyun Wook Chae | - |
dc.contributor.googleauthor | Junghwan Suh | - |
dc.contributor.googleauthor | Kyung Chul Song | - |
dc.contributor.googleauthor | Jin-Sung Lee | - |
dc.contributor.googleauthor | Ho-Seong Kim | - |
dc.identifier.doi | 10.6065/apem.2040088.044 | - |
dc.contributor.localId | A00228 | - |
dc.contributor.localId | A01184 | - |
dc.contributor.localId | A05629 | - |
dc.contributor.localId | A06013 | - |
dc.contributor.localId | A03227 | - |
dc.contributor.localId | A04026 | - |
dc.relation.journalcode | J00175 | - |
dc.identifier.eissn | 2287-1292 | - |
dc.identifier.pmid | 34218634 | - |
dc.subject.keyword | Adrenal insufficiency | - |
dc.subject.keyword | DAX-1 orphan nuclear receptor | - |
dc.subject.keyword | Hypogonadism | - |
dc.contributor.alternativeName | Kwon, Ah Reum | - |
dc.contributor.affiliatedAuthor | 권아름 | - |
dc.contributor.affiliatedAuthor | 김호성 | - |
dc.contributor.affiliatedAuthor | 서정환 | - |
dc.contributor.affiliatedAuthor | 송경철 | - |
dc.contributor.affiliatedAuthor | 이진성 | - |
dc.contributor.affiliatedAuthor | 채현욱 | - |
dc.citation.volume | 26 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 126 | - |
dc.citation.endPage | 129 | - |
dc.identifier.bibliographicCitation | ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, Vol.26(2) : 126-129, 2021-06 | - |
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