干旱区生态环境知识资源中心(Arid): 46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene

Arid

DOI	10.1007/s42000-019-00116-6
	46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene
	Neocleous, Vassos; Fanis, Pavlos; Cinarli, Feride; Kokotsis, Vasilis; Oulas, Anastasios; Toumba, Meropi; Spyrou, George M.; Phylactou, Leonidas A.; Skordis, Nicos
通讯作者	Neocleous, V ; Skordis, N (corresponding author), Cyprus Inst Neurol & Genet, Dept Mol Genet Funct & Therapy, Nicosia, Cyprus. ; Neocleous, V (corresponding author), Cyprus Sch Mol Med, Nicosia, Cyprus. ; Skordis, N (corresponding author), Paedi Ctr Specialized Pediat, Div Pediat Endocrinol, Nicosia, Cyprus. ; Skordis, N (corresponding author), Univ Nicosia, Sch Med, Nicosia, Cyprus.
来源期刊	HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM
ISSN	1109-3099
EISSN	2520-8721
出版年	2019
卷号	18 期号:3 页码:315-320
英文摘要	Purpose Disorders of sex development (DSD) have been linked to gene defects that lead to gonadal dysgenesis. Herein, we aimed to identify the genetic cause of gonadal dysgenesis in a patient with primary amenorrhoea tracing it to a phenotypic female carrying a 46,XY karyotype of a consanguineous family. Methods and results Whole exome sequencing (WES) was performed and revealed in homozygosity the rare and only once reported p.Arg164Pro missense mutation in exon 2 of the desert hedgehog (DHH) gene. Sanger sequencing was used to validate this candidate variant both in the patient, the parents, and two siblings. Both brother and sister of the index patient were found negative for the p.Arg164Pro mutation, while the consanguineous parents were found to carry the mutation in the heterozygous state. Neither the parents nor the unaffected siblings showed any reproductive malformations. Conclusions Defects in the DHH gene have been reported as a very rare cause of DSD, and this report increases the number of 46,XY gonadal dysgenesis cases. Additionally, the present study highlights the importance of genetic validation of patients with DSD, since this is likely to alleviate the considerable psychological distress experienced by both the patient and the parents.
英文关键词	Primary amenorrhea 46XY Gonadal dysgenesis Desert hedgehog DHH gene
类型	Article
语种	英语
收录类别	SCI-E
WOS记录号	WOS:000490947100010
WOS关键词	HUMAN SEX-DETERMINATION ; DISORDERS ; INSIGHTS ; VARIANT
WOS类目	Endocrinology & Metabolism
WOS研究方向	Endocrinology & Metabolism
资源类型	期刊论文
条目标识符	http://119.78.100.177/qdio/handle/2XILL650/369496
作者单位	[Neocleous, Vassos; Fanis, Pavlos; Cinarli, Feride; Toumba, Meropi; Phylactou, Leonidas A.; Skordis, Nicos] Cyprus Inst Neurol & Genet, Dept Mol Genet Funct & Therapy, Nicosia, Cyprus; [Neocleous, Vassos; Fanis, Pavlos; Cinarli, Feride; Oulas, Anastasios; Spyrou, George M.; Phylactou, Leonidas A.] Cyprus Sch Mol Med, Nicosia, Cyprus; [Kokotsis, Vasilis] Luton & Dunstable Hosp, Pediat & Neonates, London, England; [Oulas, Anastasios; Spyrou, George M.] Cyprus Inst Neurol & Genet, Bioinformat Grp, Nicosia, Cyprus; [Toumba, Meropi] IASIS Hosp, Pediat Endocrine Clin, Paphos, Cyprus; [Skordis, Nicos] Paedi Ctr Specialized Pediat, Div Pediat Endocrinol, Nicosia, Cyprus; [Skordis, Nicos] Univ Nicosia, Sch Med, Nicosia, Cyprus
推荐引用方式 GB/T 7714	Neocleous, Vassos,Fanis, Pavlos,Cinarli, Feride,et al. 46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene[J],2019,18(3):315-320.
APA	Neocleous, Vassos.,Fanis, Pavlos.,Cinarli, Feride.,Kokotsis, Vasilis.,Oulas, Anastasios.,...&Skordis, Nicos.(2019).46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene.HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM,18(3),315-320.
MLA	Neocleous, Vassos,et al."46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene".HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM 18.3(2019):315-320.