Familial central precocious puberty suggests autosomal dominant inheritance
Familial central precocious puberty suggests autosomal dominant inheritance
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DOI：
10.1210/jc.2003-030361
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发表时间：
2004-04-01
影响因子：
5.8
通讯作者：
Phillip, M
中科院分区：
文献类型：
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作者：
de Vries, L;Kauschansky, A;Phillip, M
性早熟的患病率在某些民族中较高，有些病例可能是家族性的。本研究的目的是探讨家族性性早熟的遗传模式，并确定区分家族性性早熟和孤立性性早熟的特征。在1997年1月1日至2000年12月31日至本中心就诊的453例疑似性早熟患儿中，156例（女孩147例，男孩9例）发现特发性中枢性性早熟，家族性43例（女孩42例，男孩1例），占27.5%。比较家族性病例和散发病例的资料。家族性组的特点是母亲初潮年龄明显低于散发性组（平均11.47 +/- 1.96年vs 12.66 +/- 1.18年；P +/- 0.0001），入院时青春期更早（Tanner期2,56.5% vs 78.1%; P = 0.006）。采用分离分析方法研究遗传模式。性早熟的分离率为0.38（排除年幼的兄弟姐妹后为0.45），假设不完全外显；如果完全确定，分离率为0.58（排除年幼的兄弟姐妹后为0.65）。这些结果表明常染色体显性遗传不完全，性别依赖外显率。
The prevalence of precocious puberty is higher in certain ethnic groups, and some cases may be familial. The aim of this study was to investigate the mode of inheritance of familial precocious puberty and to identify characteristics that distinguish familial from isolated precocious puberty. Of the 453 children referred to our center for suspected precocious puberty between January 1, 1997, and December 31, 2000, 156 ( 147 girls and 9 boys) were found to have idiopathic central precocious puberty, which was familial in 43 (42 girls and 1 boy) (27.5%). Data of the familial and sporadic cases were compared. The familial group was characterized by a significantly lower maternal age at menarche than the sporadic group (mean, 11.47 +/- 1.96 vs. 12.66 +/- 1.18 yr; P +/- 0.0001) and more advanced puberty at admission (Tanner stage 2, 56.5% vs. 78.1%; P = 0.006). Segregation analysis was used to study the mode of inheritance. The segregation ratio for precocious puberty was 0.38 (0.45 after exclusion of young siblings) assuming incomplete penetrance and 0.58 (0.65 after exclusion of young siblings) assuming complete ascertainment. These results suggest autosomal dominant transmission with incomplete, sex-dependent penetrance.