HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) All Versions of this Article: EJE-09-0750v1 162/3/617    most recent Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Google Scholar Articles by Homer, L Articles by De Braekeleer, M PubMed PubMed Citation Articles by Homer, L Articles by De Braekeleer, M

45,X/46,XX mosaicism below 30% of aneuploidy: clinical implications in adult women from a reproductive medicine unit

¹ CHU Brest, Service de Gynécologie Obstétrique et Médecine de la Reproduction, CHU MORVAN, 5 Avenue Foch, Brest F-29200, France
² Faculté de Médecine et des Sciences de la Santé, Université de Brest, IFR148 ScInBioS, Brest F-29200, France
³ Inserm, UMR_S 613, Brest F-29200, France
⁴ Université Européenne de Bretagne, Brest F-29200, France
⁵ CHU Brest, Service de Cytogénétique, Cytologie et Biologie de la Reproduction, Brest F-29200, France
⁶ CHU Brest, Service d'Endocrinologie et Maladies Métaboliques, Brest F-29200, France

(Correspondence should be addressed to L Homer at CHU Brest, Service de Gynécologie Obstétrique et Médecine de la Reproduction, CHU MORVAN; Email: lionelhomer{at}yahoo.fr)

Objective: Turner's syndrome (TS) is well known, but prognosis for 45,X/46,XX mosaicism below 30% of aneuploidy has not been established. We evaluated differences in clinical features and biological parameters between patients with numerical sex chromosome mosaicism diagnosed incidentally and control women.

Design: Retrospective observational study of clinical features and biological parameters.

Methods: Standard endocrinological and gynecological examination was done and early-follicular-phase blood values were collected from the medical records of women aged 21–43, who were referred to our ward from 1996 to 2006 because of infertility and were karyotyped. Seventy-one women with sex chromosome mosaicism (45,X/46,XX) ranging from 4 to 28% were assigned a chromosomally normal woman (46,XX) matched according to age (n=71).

Results: In group 45,X/46,XX, 8% or more of aneuploidy accounted for a smaller height compared to controls (P=0.01). Body mass index was increased from 6% of aneuploidy (P=0.02) and was positively correlated to the percentage of 45,X cells (P=0.0001); menarche occurred earlier from 10% of aneuploidy (P=0.01) and was inversely correlated to the percentage of 45,X cells (P=0.045). No difference was found between the groups for FSH, LH, estradiol, inhibin B, and TSH values. Spontaneous abortions were more frequent in case of mosaicism (P=0.01), and recurrence was positively correlated to the percentage of aneuploidy (P=0.008).

Conclusion: Sex chromosome mosaicism is responsible for clinical changes from 6% of aneuploidy, corresponding to the main phenotypical features of TS.