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


METHODS
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).


CONCLUSIONS
Sex chromosome mosaicism is responsible for clinical changes from 6% of aneuploidy, corresponding to the main phenotypical features of TS.
Homer
L
L
CHU Brest, Service de Gynécologie Obstétrique et Médecine de la Reproduction, CHU MORVAN, 5 Avenue Foch, Brest F-29200, France. lionelhomer@yahoo.fr
Le Martelot
M-T
MT
Morel
F
F
Amice
V
V
Kerlan
V
V
Collet
M
M
De Braekeleer
M
M
D000022:Abortion, Spontaneous / Q000235:genetics; D000328:Adult; D000704:Analysis of Variance; D000782:Aneuploidy; D001827:Body Height / Q000235:genetics; D015992:Body Mass Index; D016009:Chi-Square Distribution; D041321:Chromosomes, Human, X / Q000235:genetics*; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007247:Infertility, Female / Q000097:blood / Q000235:genetics*; D007265:Inhibins / Q000097:blood; D007621:Karyotyping; D007986:Luteinizing Hormone / Q000097:blood; D008572:Menarche / Q000235:genetics; D009030:Mosaicism; D012189:Retrospective Studies; D013972:Thyrotropin / Q000097:blood; D014424:Turner Syndrome / Q000097:blood / Q000235:genetics*
C422364:inhibin B; D004958:Estradiol; D007265:Inhibins; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013972:Thyrotropin