Liang Cui-Li, Liu Guo-Chang, Cheng Jing, Niu Hui-Lin, Fu Wen, Zhang Li-Yu, Jia Wei, Zhang Wen, Liu Li
Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China (Liu L, Email: liliuchina@qq. com).
Zhongguo Dang Dai Er Ke Za Zhi. 2024 Feb 15;26(2):158-163. doi: 10.7499/j.issn.1008-8830.2309090.
To investigate the value of the human chorionic gonadotropin (hCG) stimulation test in the diagnosis of disorder of sexual development (DSD) in children.
A retrospective analysis was conducted on 132 children with DSD. According to the karyotype, they were divided into three groups: 46,XX group (=10), 46,XY group (=87), and sex chromosome abnormality group (=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.
There was no significant difference in the multiple increase of testosterone after stimulation among the three groups (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 (<0.05).
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.
探讨人绒毛膜促性腺激素（hCG）刺激试验在儿童性发育障碍（DSD）诊断中的价值。
对132例DSD患儿进行回顾性分析。根据核型，将他们分为三组：46,XX组（=10例）、46,XY组（=87例）和性染色体异常组（=35例）。比较上述各组在hCG刺激试验前后的性激素水平，并分析睾丸组织对hCG刺激试验结果影响的形态学表现。
三组刺激后睾酮的倍增差异无统计学意义（0.05）。在46,XY组中，2型5α-还原酶缺乏症患儿的睾酮与双氢睾酮比值高于其他病因的46,XY DSD患儿。形态学分析显示，与无睾丸组织的患儿相比，有睾丸组织的DSD患儿刺激后睾酮的倍增明显更高（<0.05）。
hCG刺激试验在评估不同类型DSD患儿睾丸间质细胞的存在和功能方面具有重要价值，建议对性腺类型不明的DSD患儿进行hCG刺激试验。
