de Vries Liat, Kauschansky Arieh, Shohat Mordechai, Phillip Moshe
Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, Petah Tiqva, Israel.
J Clin Endocrinol Metab. 2004 Apr;89(4):1794-800. doi: 10.1210/jc.2003-030361.
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.
性早熟在某些种族群体中的患病率较高，部分病例可能具有家族性。本研究的目的是调查家族性性早熟的遗传模式，并确定区分家族性性早熟与散发性性早熟的特征。在1997年1月1日至2000年12月31日期间转诊至我们中心疑似性早熟的453名儿童中，有156名（147名女孩和9名男孩）被诊断为特发性中枢性性早熟，其中43名（42名女孩和1名男孩）具有家族性（27.5%）。对家族性和散发性病例的数据进行了比较。家族性组的特征是母亲初潮年龄显著低于散发性组（平均，11.47±1.96岁对12.66±1.18岁；P = 0.0001），入院时青春期发育更提前（坦纳分期2期，56.5%对78.1%；P = 0.006）。采用分离分析研究遗传模式。假设不完全外显率，性早熟的分离比为0.38（排除年幼同胞后为0.45），假设完全确认则为0.58（排除年幼同胞后为0.65）。这些结果提示常染色体显性遗传，具有不完全的、性别依赖性外显率。
