Female with 46, XY karyotype
نویسندگان
چکیده
Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare cases of 46, XY DSD, including XY pure gonadal dysgenesis and complete androgen insensitivity syndrome, who underwent a prophylactic gonadectomy.
منابع مشابه
Chimerism 47,XY,+21/46,XX in a female infant with anencephaly and other congenital defects
Chimerism is rare in humans and is usually discovered accidentally when a 46,XX and 46,XY karyotype is found in a same individual. We describe a malformed female infant with neural tube defect (NTD) and a 47,XY,+21[5]/46,XX[30] karyotype.
متن کامل45,X/46,XY mosaic patients exhibit a wide phenotyp- ic spectrum, ranging from normal females and females with Turner syndrome and normal males with mild hypospadias, to male or female pseudohermaphroditism (1). Prenatally diagnosed cases of 45,X/46,XY mosaicism
45,X/46,XY mosaic patients exhibit a wide phenotypic spectrum, ranging from normal females and females with Turner syndrome and normal males with mild hypospadias, to male or female pseudohermaphroditism (1). Prenatally diagnosed cases of 45,X/46,XY mosaicism represent an unbiased group. In over 90% of this group a normal male phenotype has been found. However, the postnatal diagnosis group is ...
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The proband was evaluated at 19 years of age because of primary amenorrhoea and, on chromosomal analysis, was found to have a 46,XY karyotype in 75% of her cells and 48,XY, +8, +21 in 25% of her cells. She appeared normal at birth and exhibited normal intellectual and physical development until puberty when secondary sexual differentiation failed. This young women showed none of the dysmorphic ...
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