ALvarez-Nava Francisco, Soto Marisol, Sánchez María A, Fernández Erika, Lanes Roberto
Unidad de Genética Médica, Facultad de Medicina, Universidad del Zulia, Maracaibo, Venezuela.
J Pediatr. 2003 Mar;142(3):336-40. doi: 10.1067/mpd.2003.95.
The frequency of Y-chromosome material is high in Turner syndrome (TS), but the ocurrence of gonadoblastoma seems to be low. We performed a study to evaluate whether DNA analysis might be a useful tool in the evaluation of patients with TS.
Unrelated patients with TS (n = 52) of Venezuelan mestizo ethnic origin were diagnosed by cytogenetic analysis as having TS.
Clinical assessment, karyotyping, endocrine evaluation, fluorescence in situ hybridization, and polymerase reaction chain analysis of the Y-chromosome loci.
We found that 7.69% (4 of 52) patients with TS had Y-chromosome material. A low occurrence of gonadoblastoma was also found (2 of 52 [3.85%]). Two patients showed a 45,X/46,XY karyotype, and gonadoblastoma in the gonadal biopsy specimen was not found. Two patients had no Y chromosome on initial karyotype; they were positive on lymphocyte DNA to Y-sequences specific. Both patients (45,X) had bilateral gonadoblastoma. The four patients with Y-chromosome material in peripheral blood lymphocytes had Y-chromosome sequences on gonadal DNA. Fluorescence in situ hybridization confirmed their Y-chromosome origin.
Our results suggest that the detection of Y-chromosome material should be carried out in all patients with TS and not be limited to patients with TS with cytogenetically identifiable Y chromosome and/or virilization.
特纳综合征（TS）中Y染色体物质的出现频率较高，但性腺母细胞瘤的发生率似乎较低。我们进行了一项研究，以评估DNA分析是否可能是评估TS患者的有用工具。
52例委内瑞拉混血人种起源的无关TS患者通过细胞遗传学分析被诊断为TS。
进行临床评估、核型分析、内分泌评估、荧光原位杂交以及Y染色体位点的聚合酶链反应分析。
我们发现7.69%（52例中的4例）的TS患者有Y染色体物质。性腺母细胞瘤的发生率也较低（52例中的2例[3.85%]）。2例患者表现为45,X/46,XY核型，性腺活检标本中未发现性腺母细胞瘤。2例患者初始核型无Y染色体；其淋巴细胞DNA对Y特异性序列呈阳性。这2例患者（45,X）均患有双侧性腺母细胞瘤。外周血淋巴细胞中有Y染色体物质的4例患者性腺DNA上有Y染色体序列。荧光原位杂交证实了它们的Y染色体来源。
我们的结果表明，所有TS患者均应进行Y染色体物质检测，而不应局限于细胞遗传学上可识别Y染色体和/或有男性化表现的TS患者。
