Gonadal pathology in a girl with 45,X/46,XY mosaicism.
نویسندگان
چکیده
منابع مشابه
Cardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism
CONTEXT The phenotype of 45,X/46,XY mosaicism is heterogeneous ranging from females with Turner syndrome (TS) to apparently normal males. Males with 45,X/46,XY frequently show stigmata typically associated with TS. We hypothesised that males with 45,X/46,XY have similar cardiovascular pathology as females with 45,X/46,XY. OBJECTIVE To investigate cardiovascular abnormalities in 45,X/46,XY mal...
متن کاملMixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene
Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY mosaicism, or sex-determining region Y (SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation. We experienced a short statured 45,X Turner...
متن کامل45,X/46,XY mosaicism: a cause of short stature in males.
45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes ranging from apparently normal male development to individuals with incomplete sexual differentiation and clinical signs of Turner syndrome in both males and females. The most common presentation among individuals with a 45,X/46,XY karyotype is sexual ambiguity, accounting for approximately 60% of cases, while the least comm...
متن کاملGonadal pathology and tumor risk in relation to clinical characteristics in patients with 45,X/46,XY mosaicism.
CONTEXT Gonadectomy is avoided whenever possible in boys with 45,X/46,XY. However, no clinical markers are currently available to guide clinicians in predicting gonadal tumor risk or hormone production. OBJECTIVE The objective of the study was to test the hypothesis that gonadal histology and risk for development of a malignant germ cell tumor are reflected by the clinical presentation of a 4...
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Cooper HL, Kupperman HS, Rendon OR, Hirschhorn K. Sexchromosome mosaicism of type XYY/XO. New Engl J Med. 1962;266:699--702. Ford CE, Polani PE, Briggs JH, Bishop PM. A presumptive human XXY/XX mosaic. Nature. 1959;183:1030--2. Fraccaro M, Gemzell CA, Lindsten J. Plasma level of growth hormone and chromosome complement in four patients with gonadal dysgenesis (Turner’s syndrome). Acta Endocrino...
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عنوان ژورنال:
- South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
دوره 105 12 شماره
صفحات -
تاریخ انتشار 2015