A patient with DAX1 mutation presenting with elevated testosterone in early infancy.
作者信息
Ge Juan, Li Tang
机构信息
Medical Department, Qingdao University, Qingdao, China.
Department of Pediatric Endocrinology and Genetic Metabolic Diseases, Qingdao Women and Children's Hospital, Qingdao, China.
出版信息
World J Pediatr. 2019 Jun;15(3):309-311. doi: 10.1007/s12519-019-00236-4. Epub 2019 Mar 20.
Abstract
摘要
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本文引用的文献
1
Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations.NR0B1 基因突变致先天性肾上腺发育不全 8 例患儿的下丘脑-垂体-睾丸轴功能的纵向评估。
PLoS One. 2012;7(6):e39828. doi: 10.1371/journal.pone.0039828. Epub 2012 Jun 27.
2
Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations.先天性肾上腺发育不全 NR0B1 基因突变所致的临床和遗传异质性。
Clin Endocrinol (Oxf). 2010 Apr;72(4):448-54. doi: 10.1111/j.1365-2265.2009.03652.x. Epub 2009 Jun 8.
3
ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation.
Eur J Pediatr. 2009 Jan;168(1):65-9. doi: 10.1007/s00431-008-0710-5. Epub 2008 Apr 15.
4
Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation.鉴定出一种新的错义突变，其对DAX-1阻遏物功能的损害程度与无义突变相同。
J Clin Endocrinol Metab. 2003 Mar;88(3):1341-9. doi: 10.1210/jc.2002-021560.
5
Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita.先天性肾上腺发育不全中的婴儿期小青春期和青少年青春期功能
J Pediatr. 1998 Aug;133(2):300-2. doi: 10.1016/s0022-3476(98)70242-2.
6
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.DAX-1基因的突变会导致X连锁先天性肾上腺发育不全和低促性腺激素性性腺功能减退。
Nature. 1994 Dec 15;372(6507):672-6. doi: 10.1038/372672a0.
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