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Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita

Authors
 Han Saem Choi  ;  Ahreum Kwon  ;  Hyun Wook Chae  ;  Junghwan Suh  ;  Kyung Chul Song  ;  Jin-Sung Lee  ;  Ho-Seong Kim 
Citation
 ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, Vol.26(2) : 126-129, 2021-06 
Journal Title
ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
ISSN
 2287-1012 
Issue Date
2021-06
Keywords
Adrenal insufficiency ; DAX-1 orphan nuclear receptor ; Hypogonadism
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.
Files in This Item:
T202104973.pdf Download
DOI
10.6065/apem.2040088.044
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kwon, Ah Reum(권아름) ORCID logo https://orcid.org/0000-0002-9692-2135
Kim, Ho Seong(김호성) ORCID logo https://orcid.org/0000-0003-1135-099X
Suh, Junghwan(서정환) ORCID logo https://orcid.org/0000-0002-2092-2585
Song, Kyungchul(송경철) ORCID logo https://orcid.org/0000-0002-8497-5934
Lee, Jin-Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
Chae, Hyun Wook(채현욱) ORCID logo https://orcid.org/0000-0001-5016-8539
Choi, Han Saem(최한샘) ORCID logo https://orcid.org/0000-0003-4140-0345
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/187053
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