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Can the external masculinization score predict the success of genetic testing in 46,XY DSD?

机译：外部男性化评分可以预测46，XY DSD基因测试的成功吗？

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Genetic testing is judiciously applied to individuals with Disorders of Sex Development (DSD) and so it is necessary to identify those most likely to benefit from such testing. We hypothesized that the external masculinization score (EMS) is inversely associated with the likelihood of finding a pathogenic genetic variant. Patients with 46,XY DSD from a single institution evaluated from 1994-2014 were included. Results of advanced cytogenetic and gene sequencing tests were recorded. An EMS score (range 0-12) was assigned to each patient according to the team's initial external genitalia physical examination. During 1994-2011, 44 (40%) patients with 46,XY DSD were evaluated and underwent genetic testing beyond initial karyotype; 23% (10/44) had a genetic diagnosis made by gene sequencing or array. The median EMS score of those with an identified pathogenic variant was significantly different from those in whom no confirmed genetic cause was identified [median 3 (95% CI, 2-6) versus 6 (95% CI, 5-7), respectively ( p = 0.02)], but limited to diagnoses of complete or partial androgen insensitivity (8/10) or 5?-reductase deficiency (2/10). In the modern cohort (2012-2014), the difference in median EMS in whom a genetic cause was or was not identified approached significance ( p = 0.05, median 3 (95% CI, 0-7) versus 7 (95% CI, 6-9), respectively). When all patients from 1994-2014 are pooled, the EMS is significantly different amongst those with compared to those without a genetic cause (median EMS 3 vs. 6, p < 0.02). We conclude that an EMS of 3 or less may indicate a higher likelihood of identifying a genetic cause of 46,XY DSD and justify genetic screening, especially when androgen insensitivity is suspected.
机译：遗传检测明智地应用于患有性发育障碍（DSD）的个体，因此有必要确定最有可能从此类检测中受益的人。我们假设外部男性化得分（EMS）与发现致病性遗传变异的可能性成反比。纳入从1994年至2014年评估的来自单一机构的46，XY DSD患者。记录了先进的细胞遗传学和基因测序测试的结果。根据团队最初的外部生殖器身体检查，为每位患者分配了EMS评分（范围为0-12）。在1994年至2011年期间，对44例（40％）46，XY DSD患者进行了评估，并接受了超出初始核型的基因检测。 23％（10/44）通过基因测序或阵列进行遗传诊断。具有确定的病原体变异的患者的中位EMS评分与未确认遗传原因的患者的EMS评分显着不同[中位数3（95％CI，2-6）比6（95％CI，5-7）（ p = 0.02）]，但仅限于诊断完全或部分雄激素不敏感（8/10）或5'-还原酶缺乏症（2/10）。在现代队列研究（2012-2014年）中，发现或未发现遗传原因的EMS中位数差异接近显着性（p = 0.05，中位数3（95％CI，0-7）与7（95％CI， 6-9））。将1994年至2014年的所有患者汇总后，与无遗传原因的患者相比，EMS显着不同（中位EMS 3 vs. 6，p <0.02）。我们得出的结论是，EMS等于或小于3可能表明更有可能确定46，XY DSD的遗传原因并证明基因筛查的正确性，尤其是在怀疑雄激素不敏感的情况下。

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