[Gonadic dysgenesis and dicentric chromosome Y. A report of two cases, one of which had a gonadoblastoma (author's transl)].
The authors report two new cases of primary amenorrhoea due to the presence of a dicentric Y with a chromosome formula of 45,X/46,X,dic(Y). These two patients show how variable the clinical manifestations of these gonosome anomalies can be, since one had a Turner's syndrome and the other is a woman who looks completely normal but only has primary amenorrhoea. A review of the literature has brought to light only 45 cases similar to ours and shows the different clinical aspects of these patients who are 45,X/46,Xdic(Y). Finding that one of our patients had a gonadoblastoma has confirmed the need to carry out bilateral castration when there is a dysgenetic gonad with a Y chromosome, in order to treat or prevent a dysgenetic tumour from arising.
D000328:Adult; D000568:Amenorrhea / Q000175:diagnosis; D004407:Dysgerminoma / Q000209:etiology; D005260:Female; D006059:Gonadal Dysgenesis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D010051:Ovarian Neoplasms / Q000209:etiology; D012729:Sex Chromosome Aberrations; D014998:Y Chromosome
Dysgénésie gonadique et chromosome Y dicentrique. Rapport de deux cas dont un avec gonadoblastome.