XO/XY mosaicism with non fluorescent Y chromosome: clinical, cytogenetic and endocrinological studies on a female subject.
Cytogenetic, clinical and endocrinological studies were performed on a phenotypically female subject who had a XO/XY mosaicism. This patient had a primary amenorrhea. A disgenic testis on the left side and a primordial ovary on the right one was showed by laparotomy performed in this subject in the prepubertal age. The Y chromosome had not any fluorescence and was shorter than normal one. The basal plasma levels of various hormones and the hypothalamic-pituitary stimulation tests were similar to other subjects with gonadal disgenesis. However a low response of growth hormone to insulin tolerance test, showed in this case, suggest the necessity to early supply a sufficient replacement of therapy.
D000328:Adult; D002872:Chromosome Deletion; D012734:Disorders of Sex Development / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D009030:Mosaicism; D010901:Pituitary Function Tests; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000235:genetics*; D014998:Y Chromosome