Liang Yan,Lyu Yiqing,Xu Zihan,et al.Significance of 2D:4D digit ratio in the assessment of children with disorders of sex development[J].Journal of Clinical Pediatric Surgery,2026,(06):526-533.[doi:10.3760/cma.j.cn101785-20260306-00092]
第二指与第四指长度比在性发育异常患儿评估中的意义探索
- Title:
- Significance of 2D:4D digit ratio in the assessment of children with disorders of sex development
- Keywords:
- Disorder of Sex Development; Diagnosis; Differential; Symptom Assessment; Second-to-fourth Digit Length Ratio; Masculinization Programming Window; Androgens
- 摘要:
- 目的 分析不同类型性发育异常(disorders of sex development,DSD)患者第二指与第四指长度比(2D∶4D),探讨其与男性化编程窗口(masculinization programming window,MPW)期性激素水平的关系,并评估2D∶4D作为DSD辅助诊断指标的价值。方法 采用前瞻性研究设计。收集上海市儿童医院2023年10月至2026年2月收治的DSD患儿作为观察组,根据疾病类型分为6个亚组:21羟化酶缺乏症(21例)、5α还原酶缺乏症(n=12)、17α羟化酶缺乏症(n=6)、双侧性腺发育不良(n=11)、完全性雄激素不敏感综合征(complete androgen insensitivity syndrome,CAIS)(n=18)、克氏综合征(n=9)。同时收集本院同期接诊的男性包茎和(或)鞘膜积液患儿(n=30)及女性阑尾炎和(或)腹股沟斜疝患儿(n=30)作为对照组。保存所有患儿双手复印件,由两名医师独立测量第二指及第四指长度,计算双手2D∶4D并取平均值(M 2D∶4D)进行统计分析。同一患儿左右侧2D∶4D比较采用Wilcoxon符号秩检验,两组间M 2D∶4D比较采用Mann-Whitney U检验,多组间M 2D∶4D比较采用Kruskal-Wallis检验,两两比较采用Dunn检验。结果 共纳入137例患儿。患儿左侧2D∶4D与右侧2D∶4D差异无统计学意义(P=0.230)。正常男性与正常女性的M 2D∶4D差异有统计学意义(P=0.010)。Kruskal-Wallis检验显示,17α羟化酶缺乏症患儿与正常男性、正常女性比较,M 2D∶4D差异均无统计学意义(P＞0.05)。除17α羟化酶缺乏症患儿外,观察组中各疾病亚组与正常男性及正常女性比较,M 2D∶4D差异均有统计学意义(P＜0.05)。46,XX 21羟化酶缺乏症患儿M 2D∶4D低于正常女性(P＜0.001),5α还原酶缺乏症患儿与正常男性M 2D∶4D的差异无统计学意义(P＞0.05),性腺发育不良、CAIS及克氏综合征患儿M 2D∶4D均高于正常男性(P＜0.05)。结论 4D可作为DSD患儿MPW期雄激素水平研究的探索性工具,不同病因的DSD患儿呈现不同的2D∶4D模式。2D∶4D在DSD患儿的辅助诊断中具有一定参考价值。
- Abstract:
- Objective To explore the relationship between second-to-fourth digit ratio (2D:4D) and sex hormone levels during masculinization programming window (MPW) through analyzing children with different types of disorders of sex development (DSD) and evaluate the potential value of 2D:4D as an auxiliary diagnostic indicator for DSD. Methods For this prospective study,137 DSD children hospitalized from October 2023 to February 2026 were enrolled as observation group.Copies of both hands were preserved.Based upon disease type,they were assigned into 6 categories of 21-hydroxylase deficiency (n=21),5α-reductase deficiency (n=12),17α-hydroxylase deficiency (n=6),bilateral gonadal dysgenesis (n=11),complete androgen insensitivity syndrome (n=18) and Klinefelter syndrome (n=9).During the same period,male children diagnosed as phimosis/hydrocele (n=30) and female children diagnosed as appendicitis/indirect inguinal hernia (n=30) were enrolled as normal control group.Copies of both hands from all affected cases should be retained.The lengths of index and ring fingers of each individual were independently measured by two physicians.2D∶4D ratio for each hand was calculated and mean value (M 2D∶4D) utilized for statistical analysis.Wilcoxon signed-rank test was employed for comparing left and right 2D∶4D within the same individual.Mann-Whitney U test was employed for comparing M 2D∶4D between two groups and Kruskal-Wallis test for comparing M 2D∶4D among multiple groups.Post-hoc pairwise comparisons were performed with Dunn’s test. Results No statistically significant difference existed between left and right 2D∶4D ratios (P=0.230).A statistically significant difference in M 2D∶4D was noted between normal males and normal females (P=0.010).Kruskal-Wallis test revealed no significant difference in M 2D∶4D between children with 17α-hydroxylase deficiency and either normal male or normal female children (P>0.05).With the exception of individuals with 17α-hydroxylase deficiency,all other disease categories in observation group showed statistically significant differences in M 2D∶4D as compared to both normal males and normal females (P<0.05).Specifically,children with 46,XX 21-hydroxylase deficiency exhibited a significantly lower M 2D∶4D than normal females (P<0.001).No significant difference existed in M 2D∶4D between children with 5α-reductase deficiency and normal males (P>0.05).Children with gonadal dysgenesis,complete androgen insensitivity syndrome (CAIS) and Klinefelter syndrome all demonstrated significantly higher M 2D∶4D ratios than normal males (P<0.05). Conclusion 2D∶4D ratio may serve as an exploratory tool for examining hormone profiles during Mini-Puberty of Infancy (MPW) in DSD children with distinct 2D∶4D patterns corresponding to different etiologies of DSD.As a stable indicator reflecting androgen exposure during MPW period,2D∶4D ratio may be utilized as useful reference in auxiliary diagnostic evaluation of DSD children.
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备注/Memo
收稿日期:2026-3-6。
基金项目:上海市 2024 年度"科技创新行动计划"医学创新研究领域项目(24Y12800700)
通讯作者:吕逸清,Email:tristan_ren@hotmail.com