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 development.These condition...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 development.These conditions result in problems concerning the sex assignment of the child.This study aims to describe the clinical features,diagnosis and management of children with DSD in southern Thailand.Methods:The medical records of 117 pediatric patients diagnosed with DSD during the period of 1991-2011 were retrospectively reviewed.Results: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 DSD.Of the total 20 children with 46,XY DSD,16(80%)were raised as females.Conclusion:Management of DSD children has many aspects of concern.Sex assignment/reassignment depends on the phenotype(phallus size)of the external genitalia rather than the sex chromosome.展开更多
文摘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 development.These conditions result in problems concerning the sex assignment of the child.This study aims to describe the clinical features,diagnosis and management of children with DSD in southern Thailand.Methods:The medical records of 117 pediatric patients diagnosed with DSD during the period of 1991-2011 were retrospectively reviewed.Results: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 DSD.Of the total 20 children with 46,XY DSD,16(80%)were raised as females.Conclusion:Management of DSD children has many aspects of concern.Sex assignment/reassignment depends on the phenotype(phallus size)of the external genitalia rather than the sex chromosome.
