Grosso S, Anichini C, Berardi R, Balestri P, Pucci L, Morgese G
Department of Pediatrics, University of Siena, Siena, Italy.
Endocr Pathol. 2000 Spring;11(1):69-75. doi: 10.1385/ep:11:1:69.
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.
中枢性性早熟（CPP）可由染色体畸变引起。我们报告了3例表现为中枢性性早熟的患者，其核型分析显示染色体模式异常。首例患者患有XXX综合征，通常表现为卵巢早衰。第二例患者是一名患有inv dup(15)(pter→q12::q12→pter)的女孩，其染色体畸变涉及人类基因组的一个印记区域，该区域的缺失通常与普拉德-威利综合征（PWS）和低促性腺激素性性腺功能减退有关。第三例患者是一名携带罕见染色体异常——9号染色体（q22→qter）重复的男孩。所有患者均有智力障碍，1号患者为轻度，2号患者为中度，3号患者为重度。他们接受了促黄体生成素释放激素（LHRH）类似物治疗，该治疗能够阻止性发育进程。我们证实染色体畸变是中枢性性早熟的一个重要原因，并且对于患有性早熟和智力障碍的患者，即使是轻度智力障碍，进行核型分析也是必要的，因为可能存在染色体异常。
