[Amenorrhea and X chromosome abnormalities].
OBJECTIVE
to correlate the clinical manifestations of patients with amenorrhea and X chromosome abnormalities.


METHODS
a retrospective analysis of the clinical and laboratorial findings of patients with amenorrhea and abnormalities of X chromosome, attended between January 1975 and November 2007 was performed. Their anthropometric measures were evaluated through standard growth tables, and, when present, minor and major anomalies were noted. The chromosomal study was performed through the GTG banded karyotype.


RESULTS
from the total of 141 patients with amenorrhea, 16% presented numerical and 13% structural abnormalities of X chromosome. From these patients with X chromosome abnormalities (n=41), 35 had a complete clinical description. All presented hypergonadotrophic hypogonadism. Primary amenorrhea was observed in 24 patients, 91.7% of them with a Turner syndrome phenotype. Despite a case with Xq22-q28 deletion, all patients with this phenotype presented alterations involving Xp (one case with an additional cell lineage 46,XY). The two remaining patients with only primary amenorrhea had proximal deletions of Xq. Among the 11 patients with secondary amenorrhea, 54.5% presented a Turner phenotype (all with isolated or mosaic X chromosome monosomy). Patients with phenotype of isolated ovarian failure had only Xq deletions and X trisomy.


CONCLUSIONS
the cytogenetic analysis must always be performed in women with ovarian failure of unknown cause, even in the absence of clinical dysmorphic features. This analysis is also extremely relevant in syndromic patients, because it can either confirm the diagnosis or identify patients in risk, like the cases involving a 46,XY lineage.
Rosa
Rafael Fabiano Machado
RF
Complexo Hospitalar Santa Casa de Porto Alegre, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brasil.
Dibi
Raquel Papandreus
RP
Picetti
Jamile dos Santos
Jdos S
Rosa
Rosana Cardoso Manique
RC
Zen
Paulo Ricardo Gazzola
PR
Graziadio
Carla
C
Paskulin
Giorgio Adriano
GA
D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000235:genetics*; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D008875:Middle Aged; D012189:Retrospective Studies; D012729:Sex Chromosome Aberrations; D055815:Young Adult