Rosa Rafael Fabiano Machado, Dibi Raquel Papandreus, Picetti Jamile dos Santos, Rosa Rosana Cardoso Manique, Zen Paulo Ricardo Gazzola, Graziadio Carla, Paskulin Giorgio Adriano
Complexo Hospitalar Santa Casa de Porto Alegre, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brasil.
Rev Bras Ginecol Obstet. 2008 Oct;30(10):511-7. doi: 10.1590/s0100-72032008001000006.
to correlate the clinical manifestations of patients with amenorrhea and X chromosome abnormalities.
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.
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.
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.
将闭经患者的临床表现与X染色体异常进行关联分析。
对1975年1月至2007年11月期间诊治的闭经且X染色体异常患者的临床及实验室检查结果进行回顾性分析。通过标准生长图表评估其人体测量指标，若存在轻微和严重异常则予以记录。染色体研究采用GTG带型核型分析。
在总共141例闭经患者中，16%存在X染色体数目异常，13%存在结构异常。在这些X染色体异常患者（n = 41）中，35例有完整的临床描述。所有患者均表现为高促性腺激素性性腺功能减退。24例患者出现原发性闭经，其中91.7%具有特纳综合征表型。尽管有1例Xq22 - q28缺失病例，但所有具有该表型的患者均表现出涉及Xp的改变（1例额外细胞系为46,XY）。其余2例仅原发性闭经的患者有Xq近端缺失。在11例继发性闭经患者中，54.5%表现为特纳表型（均为孤立或嵌合型X染色体单体）。孤立性卵巢功能衰竭表型的患者仅有Xq缺失和X三体。
对于病因不明的卵巢功能衰竭女性，即使没有临床畸形特征，也必须始终进行细胞遗传学分析。该分析在综合征患者中也极为重要，因为它既可以确诊，也可以识别有风险的患者，如涉及46,XY细胞系的病例。
