Article
Gonadal pathology and tumor risk in relation to clinical characteristics in patients with 45,X/46,XY mosaicism.
The Journal of clinical endocrinology and metabolism - 1 Jul 2011
Cools M, Pleskacova J, Stoop H, Hoebeke P, Van Laecke E, Drop S L S, Lebl J, Oosterhuis J W, Looijenga L H J, Wolffenbuttel K P
Abstract excerpt
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 45,X/46,XY...
Topics
- Child
- Child, Preschool
- Female
- Genetic Predisposition to Disease
- Gonadal Dysgenesis, 46,XY
- Gonads
- Humans
- Male
- Mosaicism
- Neoplasms
- Phenotype
- Risk
- Sex Chromosome Aberrations
- Turner Syndrome