Research progress on disorders of sex development in children

FANG Xin

Chinese Journal of Child Health Care ›› 2017, Vol. 25 ›› Issue (10) : 1023-1026.

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Chinese Journal of Child Health Care ›› 2017, Vol. 25 ›› Issue (10) : 1023-1026. DOI: 10.11852/zgetbjzz2017-25-10-13

Research progress on disorders of sex development in children

  • FANG Xin
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Abstract

Disorders of sex development (DSD)is defined as congenital conditions where development of chromosomal,gonadal,or anatomic sex is atypical.The diagnosis and treatment of DSD are difficult because of the complicated etiologies and the various clinical manifestations.In the recent years,based on the rapid development of molecular diagnostics,the precision medicine model,which selects appropriate and optimal therapies by multiple disciplinary team,has very important value in early diagnosis and prevention of physiological function and psychological damage in children with DSD.

Key words

disorders of sex development / etiology / diagnosis / therapeutics / children

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FANG Xin. Research progress on disorders of sex development in children[J]. Chinese Journal of Child Health Care. 2017, 25(10): 1023-1026 https://doi.org/10.11852/zgetbjzz2017-25-10-13

References

[1] Lee PA,Houk CP,Ahmed SF,et al.Consensus statement on management of intersex disorders[J].Pediatrics,2006,118(2):e488-500.
[2] Barseghyan H,Délot E,Vilain E.New genomic technologies:an aid for diagnosis of disorders of sex development[J].Horm Metab Res,2015,47(5):312-320.
[3] Larson A,Nokoff NJ,Travers S.Disorders of sex development:clinically relevant genes involved in gonadal differentiation[J].Discov Med,2012,14(78):301-309.
[4] Savchuk I,Morvan ML,Antignac JP.A genomic atlas of human adrenal and gonad development[J].Endocr Connect,2017,6(6):348-359.
[5] Baxter RM, Vilain E.Translational genetics for diagnosis of human disorders of sex development[J].Annu Rev Genomics Hum Genet,2013,14:371-392.
[6] Bruque CD,Delea M,Fernandez CS,et al.Structure-based activity prediction of CYP21A2 stability variants:A survey of available gene[J].Sci Rep,2016,6:39082.
[7] Biason Lauder A.WNT4,RSPO1,and FOXL2 in sex development[J].Semin Reprod Med,2012,30(5):387-395.
[8] Camats N,Pandey AV,Fernandez-Cancio M,et al.The novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals[J].J Clin Endocrinol Metab,2012,97(7):E1294-E1306.
[9] 刘国昌,李忠民,汪凤华,等.邻苯二甲酸二丁酯影响雄性大鼠性器官发育的作用机制研究[J].临床小儿外科杂志,2010,9(5):341-344.
[10] Zhang Q,Zou P,Zhan H,et al.Dihydrolipoamide dehydrogenase and cAMP are associated with calnium-mediated Leydig cell damage[J].Toxicol Let,2011,205(2):183-189.
[11] Segner H.Zebrafish(Danio rerio)as a model organism for investigating endocrine disruption[J].Comp Biochem Physiol C Toxicol Pharmacol,2009,149(2):187-195.
[12] Someda S,Fukami M,Fujimoto M,et al.Association of micropenis with Pro185Ala polymorphism of the gene for aryl hydrocarbon receptor repressor involved in dioxin signaling[J].Endocr J,2005,52(1):83-88.
[13] Zhang XF,Zhang LJ,Feng YN,et al.Bisphenol A exposure modifies DNA methylation of imprint genes in mouse fetal germ cells[J].Mol Biol Rep,2012,39(9):8621-8628.
[14] Bromer JG,Zhou Y,Taylor MB,et al.Bisphenol A exposure in utero leads to epigenetic alteration in the developmental programming of uterine estrogen response[J].FASEB J,2010,24(7):2273-2280.
[15] Hughes IA.Disorders of sex development:a new definition and classification[J].Best Pract Res Clin Endocrinol Metab,2008,22(1):119-134.
[16] Ahmed SF,Rodic M.Investigation and initial management of ambiguous genitalia[J].Best Pract Res Clin Endocrinol Metab,2010,24(2):197-218.
[17] Ahmed SF,Achermann JC,Arlt W,et al.Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development(Revised 2015) [J].Cli Endocrinol(Oxf),2011,75(1):12-26.
[18] 颜纯,王慕逖.小儿内分泌学[M].北京:人民卫生出版社,2006:366-368.
[19] Sandberg DE,Pasterski V,Callens Nina.Introduction to the special section:Disorders of sex development[J].J Pediatr Psychol,2017,42(5):487-495.
[20] Warne GL,Bhatia V.Intersex,east and west[M]//Sytsma S.Ethic and intersex.Berlin:Springer,2006:183-205.
[21] Vidal I,Gorduza DB,Haraux E,et al.Surgical options in disorders of sex development(DSD) with ambiguous genitalia[J].Best Pract Res Clin Endocrinol Metab,2010,24(2):311-324.
[22] 唐达星,付君芬.性别发育异常的新认识及外科选择[J].中华小儿外科杂志,2016,37(7):481-484.
[23] Kolon TF,Herndon CD,Baker LA,et al.Evaluation and treatment of cryptorchidism:AUA guideline[J].J Urol,2014,192(2):337-345.
[24] Dason S,Wong N,Braga LH.The contemporary role of 1 vs 2 stage repair for proximal hypospadias[J].Transl Androl Urol,2014,3(4):347-358.
[25] 罗小平,应艳琴.关注儿童性发育障碍疾病的诊治[J].中国实用儿科杂志,2013,28(10):721-724.
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