探讨下一代靶向核基因组测序在拟诊性别发育异常（DSD）患者诊治中的应用。

收集2017年7月至2020年7月收治的53例性别发育异常疑似患者资料，提取患者及其父母外周血DNA，运用含有141个靶向核基因组检测包对DSD患者进行下一代靶向核基因组检测，分析结果。

53例DSD疑似患者中，检测出21例相关的染色体或基因变异，其中致病变异或可能致病变异13例，7例新发变异以及1例致病意义未明的变异，7例新发变异中2例被预测为致病变异，确诊率为28.3%（15/53）。检测阳性率为39.6%（21/53），所涉及的基因为SRD5A2，CHD7，AR，NR5A1，NSMF，MAP3K1，MAMLD1，ANOS1，含1例47，XXY性染色体DSD伴卵睾型DSD，20例46，XY DSD，其中20例经手术治疗。32例患儿存在相应的临床症状，但未检测出相应的遗传学变异，31例经手术治疗。

靶向下一代核基因组测序提高了DSD疑似患者的早期确诊率，其结果对于治疗方案的选择具有指导意义。

To explore the application of next-generation targeted nuclear genome sequencing in the diagnosis and treatment of patients with suspected disorders of sex development (DSD).

The data of 53 suspected patients with DSD were admitted from July 2017 to July 2020, and the peripheral blood DNA of the patients and their parents were collected. The next generation of targeted nuclear genome sequencing of DSD patients was carried out using a panel containing 141 targeted nuclear genomes, and the results were analyzed.

Among the 53 patients with suspected DSD, 21 cases of related chromosomal or gene variants were detected. Among them, 13 cases were pathogenic variants or likely pathogenic variants, 7 were novel variants, and 1 of uncertain significance. Two of the seven new variants were predicted as pathogenic variants, so the diagnosis rate was 28.3%(15/53). The positive rate was 39.6%(21/53), and the genes involved SRD5A2, CHD7, AR, NR5A1, NSMF, MAP3K1, MAMLD1, ANOS1, including 1 case 47, XXY DSD and ovotesticular DSD, and 20 cases 46, XY DSD, 20 of which were treated by surgery. 32 children had corresponding clinical symptoms, but no corresponding genetic variation was detected. 31 cases were treated with surgery.

Targeted next-generation nuclear genome sequencing improves the early diagnosis rate of suspected DSD patients, and the results can help for the choice of treatment.