人绒毛膜促性腺激素激发试验在性发育异常儿童中的诊断作用评估

Value of the human chorionic gonadotropin stimulation test in the diagnosis of disorder of sexual development in children

摘要:

目的 探讨人绒毛膜促性腺激素（human chorionic gonadotrophin, hCG）激发试验在诊断不同分型性发育异常（disorder of sexual development, DSD）患儿中的价值。方法 回顾性分析132例DSD患儿，按染色体核型分为46,XX组（n=10）、46,XY组（n=87）、性染色体异常组（n=35），比较各组患儿hCG激发试验前后的性激素水平，分析形态学上是否存在睾丸组织对hCG激发试验结果的影响。结果 3组患儿激发试验后睾酮（testosterone, T）增加倍数比较差异无统计学意义（P>0.05）。46,XY组中，5α-还原酶2缺乏症患儿激发试验后的T与双氢睾酮（dihydrotestosterone, DHT）比值高于其他46,XY DSD患儿（P<0.05）。形态学上，有睾丸组织的DSD患儿激发试验后T增加倍数高于无睾丸组织患儿（P<0.05）。结论 hCG激发试验对于评估不同类型的DSD患儿的睾丸间质细胞存在和功能均具有重要价值，对于性腺性质不明确的DSD患儿，均建议行hCG激发试验。

Abstract:

Objective To investigate the value of the human chorionic gonadotropin (hCG) stimulation test in the diagnosis of disorder of sexual development (DSD) in children.Methods A retrospective analysis was conducted on 132 children with DSD. According to the karyotype, they were divided into three groups: 46,XX group (n=10), 46,XY group (n=87), and sex chromosome abnormality group (n=35). The above groups were compared in terms of sex hormone levels before and after hCG stimulation test, and the morphological manifestation of the impact of testicular tissue on the results of the hCG stimulation test was analyzed.Results There was no significant difference in the multiple increase of testosterone after stimulation among the three groups (P>0.05). In the 46,XY group, the children with 5α-reductase type 2 deficiency had a testosterone-to-dihydrotestosterone ratio higher than that of the 46,XY DSD children with other causes. Morphological analysis showed that DSD children with testicular tissue demonstrated a significantly higher multiple increase in testosterone after stimulation compared to children without testicular tissue (P<0.05).Conclusions The hCG stimulation test has an important value in assessing the presence and function of testicular interstitial cells in children with different types of DSD, and it is recommended to perform the hCG stimulation test for DSD children with unclear gonadal type.