IJERPH, Vol. 18, Pages 917: Multidisciplinary Approach to the Child with Sex Chromosomal Mosaicism Including a Y-Containing Cell Line
IJERPH, Vol. 18, Pages 917: Multidisciplinary Approach to the Child with Sex Chromosomal Mosaicism Including a Y-Containing Cell Line
International Journal of Environmental Research and Public Health doi: 10.3390/ijerph18030917
Authors:
Bauke Debo
Marlies Van Loocke
Katya De Groote
Els De Leenheer
Martine Cools
Children born with sex chromosomal mosaicism including material derived from the Y chromosome may present with a broad phenotypical spectrum. Both boys and girls can present with Turner features and functional health problems typically associated with Turner syndrome, but the presence of Y-chromosomal material can modify some aspects of the condition. We retrospectively analyzed the results of our cohort of 21 individuals (14 boys, 7 girls) with sex chromosomal mosaicism including Y-derived material followed at Ghent University Hospital according to our local multidisciplinary Turner surveillance protocol. Results were compared with literature data, focusing on similarities and differences between girls and boys with this condition. Age at diagnosis was lower in boys compared to girls but the difference was not significant. Short stature is a key feature of the condition both in girls and boys, but skeletal maturation may be different between groups. The effects of growth-hormone therapy remain unclear. Cardiac (33%), ear-nose- throat (ENT) (77.8%) and renal (28.6%) problems were as prevalent in boys as in girls from our cohort, and did not differ from ...
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Bauke Debo Marlies Van Loocke Katya De Groote Els De Leenheer Martine Cools Tags: Article Source Type: research
More News: Boys | Cancer & Oncology | Children | ENT & OMF | Environmental Health | Germ Cell Tumors | Girls | Hormonal Therapy | Hormones | Hospitals | International Medicine & Public Health | Study | Turner Syndrome