Central precocious puberty and abnormal chromosomal patterns
Central precocious puberty and abnormal chromosomal patterns
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DOI：
10.1385/ep:11:1:69
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发表时间：
2000-03-01
影响因子：
4.4
通讯作者：
Morgese, G
中科院分区：
文献类型：
--
作者：
Grosso, S;Anichini, C;Morgese, G
中枢性青春期早熟(PP)可由染色体异常引起。我们报告三位表现为中央性PP的患者，核型分析显示异常的染色体模式。第一个患者受到三重X综合征的影响，通常以卵巢早衰为特征。第二个患者是一名患有inv DUP(15)的女孩(PTER-->；q12：：q12->；PTER)，其染色体异常涉及人类基因组的印迹区域，该区域的缺失通常与Prader-Willi综合征(PWS)和性腺功能减退症有关。第三名患者是一名男孩，携带一种罕见的染色体异常，即9号染色体重复(Q22-->；QTER)。所有患者均有智力低下，其中1例为轻度，2例为中度，3例为重度。他们接受了黄体生成素释放激素(LHRH)类似物的治疗，这种治疗能够阻止性发育的进展。我们确认染色体异常是中枢性PP的重要原因，对PP和智力低下患者进行核型分析是必要的，即使是轻微的，因为染色体异常可能存在。
Central precocious puberty (PP) can be caused by chromosomal aberrations. We report three patients presenting with central PP in whom karyotype analysis demonstrated abnormal chromosomal patterns. The first patient was affected by the triple-X syndrome, commonly characterized by premature ovarian failure. The second patient, a girl with inv dup(15)(pter-->q12::q12-->pter), had a chromosomal aberration involving an imprinted region of the human genome, whose deletion is commonly associated with Prader-Willi syndrome (PWS) and hypogonadotrophic hypogonadism. The third patient was a boy carrying a rare chromosome abnormality, the duplication of chromosome 9 (q22-->qter). All patients had mental retardation, which was mild in patient 1, moderate in patient 2, and severe in case 3. They underwent treatment with luteinizing hormone releasing hormone (LHRH) analogs, which were able to stop the progression of the sexual development. We confirm that chromosomal aberrations are an important cause of central PP, and that karyotype analysis in patients with PP and mental retardation, even if mild, is necessary because chromosomal abnormalities can be present.