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.
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.
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.
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.
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.
Nature. 1994 Dec 15;372(6507):672-6. doi: 10.1038/372672a0.
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