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Clinical features and an atypical WT1 mutant site in a child with incomplete Denys-Drash syndrome

Asian Journal of Andrology 2014年第4期16卷 647-649页

作者： Hai-Yan Wang Zhi-Hui Yue Liang-Zhong Sun Jia-Cong Mo Ying Mo Jun-Jie Sun Department of Pediatrics The First Affiliated Hospital Department of Pediatrics Sun Yat-sen Memorial Hospital Department of Pediatric Surgery The First Affiliated Hospital Sun Yat-sen University Guangzhou China.

Dear Editor, Denys-Drash syndrome （DDS） is characterized by the triad of progressive nephropathy, urogenital malformation and Wilms＇ tumor. Incomplete variants present with nephropathy with either intersex disorders or Wilms＇ tumor.1 Most DDS patients carry WTI mutations in exon 8 or 9.1 Here, we report an incomplete DDS child who carried a novel WT1 missense mutation in exon 6 and had unique clinical manifestations.

关键词： GENOTYPE/PHENOTYPE CORRELATIONS ambiguous genitalia MUTATION PATIENT GENE

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Management of children with disorders of sex development:20-year experience in southern Thailand

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World Journal of Pediatrics 2014年第2期10卷 168-174页

作者： Somchit Jaruratanasirikul Vorapun Engchaun Department of Pediatrics Faculty of MedicinePrince of Songkla UniversityHat Yai 90110SongkhlaThailand

Background:Disorders of sex development(DSD)is a group of sexual differentiation disorders resulting in genital anomalies with defects in gonadal hormone synthesis and/or incomplete genital *** conditions result in problems concerning the sex assignment of the *** study aims to describe the clinical features,diagnosis and management of children with DSD in southern ***:The medical records of 117 pediatric patients diagnosed with DSD during the period of 1991-2011 were retrospectively ***:Disorders of sex development were categorized into 3 groups:sex chromosome abnormalities(53.0%),46,XX DSD(29.9%)and 46,XY DSD(17.1%).The two most common etiologies of DSD were Turner syndrome(36.8%)and congenital adrenal hyperplasia(29.9%).ambiguous genitalia/intersex was the main problem in 46,XX DSD(94%)and 46,XY DSD(100%).Sex reassignment was done in 5 children(4.3%)at age of 3-5 years:from male to female in 4 children(1 patient with congenital adrenal hyperplasia,1 patient with 45,X/46,XY DSD,and 2 patients with 46,XX ovotesticular DSD)and from female to male in 1 patient with 46,XX ovotesticular *** the total 20 children with 46,XY DSD,16(80%)were raised as ***:Management of DSD children has many aspects of *** assignment/reassignment depends on the phenotype(phallus size)of the external genitalia rather than the sex chromosome.

关键词： ambiguous genitalia disorders of sex development genital ambiguity gonadal dysgenesis intersex sex assignment

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