[Gonadic dysgenesis and dicentric chromosome Y. A report of two cases, one of which had a gonadoblastoma (author's transl)].

Abstract

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.

• Authors: H Plauchu, G Magnin, C Laurent, A Combet, E Drapier, M Dumont, Y Rochet, J M Robert
• Journal: Journal de gynecologie, obstetrique et biologie de la reproduction (J Gynecol Obstet Biol Reprod (Paris)) Vol. 10 Issue 8 Pg. 839-44 ( 1981) ISSN: 0368-2315 [Print] France
• Vernacular Title: Dysgénésie gonadique et chromosome Y dicentrique. Rapport de deux cas dont un avec gonadoblastome.
• PMID: 7200106 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Adult
• Amenorrhea (diagnosis)
• Dysgerminoma (etiology)
• Female
• Gonadal Dysgenesis (complications, diagnosis, genetics)
• Humans
• Male
• Ovarian Neoplasms (etiology)
• Sex Chromosome Aberrations
• Y Chromosome