46,XX,SRY(-)无性腺新生儿1例报道及文献回顾

张楠, 王莹, 何学佳, 毕玫荣

中国儿童保健杂志 ›› 2018, Vol. 26 ›› Issue (12) : 1394-1396.

PDF(503 KB)
PDF(503 KB)
中国儿童保健杂志 ›› 2018, Vol. 26 ›› Issue (12) : 1394-1396. DOI: 10.11852/zgetbjzz2018-0323
个案报道

46,XX,SRY(-)无性腺新生儿1例报道及文献回顾

  • 张楠, 王莹, 何学佳, 毕玫荣
作者信息 +
文章历史 +

引用本文

导出引用
张楠, 王莹, 何学佳, 毕玫荣. 46,XX,SRY(-)无性腺新生儿1例报道及文献回顾[J]. 中国儿童保健杂志. 2018, 26(12): 1394-1396 https://doi.org/10.11852/zgetbjzz2018-0323
中图分类号: R722   

参考文献

[1] Rost S,Loffler S,Pavlova A,et al.Detection of large duplicationswithin the factor Ⅷ gene by MLPA[J].J Thromb Haemost,2008,6(11):1996-1999.
[2] Gao XF, Chen GA, Jing H, et al.Clinical, cytogenetic, and molecular analysis with 46, XX male sex reversal syndrome:case reports[J].J Assist Reprod Genet,2013,30(3):431-435.
[3] Barbaro M, Balsamo A, Anderlid BM,et al.Characteriza tion of deletions at 9p affecting the candidate regions forsex reversal and deletion 9p syndrome by MLPA[J] .Eur J Hum Genet,2009,17(11):1439 -1447.
[4] 蔡志明.Y 染色体及其微缺失与男性不育:过去, 现在与将来[J] .中华男科学杂志,2010,16(5):387-394.
[5] 武桂芳,金瑞林,贾和平,等.46XY 女性性反转综合征一例SRY基因的错义突变分析[J].解放军医药杂志,2011,23(1):4-6.
[6] Queralt R, Madrigal I, Vallecillos MA, et al.Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletion[J].Am J Med Genet A,2008,146A(10):1335-1340.
[7] 贺静,唐新华,朱宝生,等.46,XX男性综合征的遗传学诊断和临床分析[J].中华男科学杂 志,2011,17(1):68-72.
[8] Bonfig W, Schmidt H, Schwarz HP.Growth patterns in the first three years of life in children with classical congenital adrenal hyperplasia diagnosed by newborn screening and treated with low doses of hydrocortisone[J] .Horm Res Paediatr,2011,75(1):32-37.
[9] 付姣,刘晓翌 .SRY、SOX9、DAX-1 基因与性反转综合征的研究进展[J].中国优生与遗传杂志,2009,3(1):7-8.
[10] Bonfig W,Schmidt H,Schwarz HP.Growth patterns in the first three years of life in children with classical congenital adrenal hyperplasia diagnosed by newborn screening and treated with low doses of hydrocorti-sone[J].Horm Res Paediatr,2011,75(1):32-37.
[11] 邵肖梅,叶鸿瑁,丘小汕,实用新生儿学[M].北京:人民卫生出版社,2011:788.
[12] Gallagher MP, Levine LS, Oberfield SE.A review of the effects of therapy on growth and bone mineralization in children with congenital adrenal hyperplasia[J].Growth Horm & LGF Res,2005,15(Suppl A):26-30.
[13] Shankara NN, Kean AM, Ewans L, et al.Painful ovulation in a 46,XX SRY -ve adult male with SOX9 duplication[J].Endocrinol Diabetes Metab Case Rep,2017,pii:17-0045.

PDF(503 KB)

Accesses

Citation

Detail

段落导航
相关文章

/