雄激素受体不敏感综合征合并绒癌及人绒毛膜促性腺激素相关甲亢1例并文献复习

doi:10.3969/j.issn.1004-583X.2023.07.008

摘要/Abstract

摘要：

目的分析雄激素不敏感综合征( AIS) 的诊断及治疗特点。方法回顾性分析广西壮族自治区民族医院2020年收治的1例AIS合并绒癌及人绒毛膜促性腺激素(HCG)相关甲亢患者的临床资料,对疾病的病因诊断及治疗进行总结。结果该患者外观均呈女性型,染色体核型为46,XY,患者睾酮水平高于正常男性,并合并有绒毛膜细胞癌及HCG相关甲亢,予手术切除性腺及肿瘤。结论对原发性闭经社会性别为女性,血睾酮增高的患者,尽早期做染色体检查,一旦发现染色体异常行相关的基因检测,做到早诊断、早治疗,避免性腺肿瘤的发生。

关键词: 性腺发育不全, 46 XY, 完全型雄激素不敏感, HCG相关甲亢

Abstract:

Objective To analyze the diagnostic and therapeutic characteristics of androgen insensitivity syndrome (AIS). Methods Clinical data of a patient treated in the Minzu Hospital of Guangxi Zhuang Autonomous Region in 2020, who was diagnosed as AIS combined with choriocarcinoma and human chorionic gonadotropin (HCG)-induced hyperthyroidism were retrospectively analyzed. The diagnostic and therapeutic process were summarized. Results The patient was characterized by a female phenotype and 46, XY karyotype, who had higher testosterone levels than normal men. The patient was combined with choriocarcinoma and HCG-induced hyperthyroidism, and managed by the surgical resection of the gonad and primary tumor. Conclusion Chromosomal analysis should be provided to female gender patients with primary amenorrhea and high testosterone levels. Genetic testing is necessary once disease-associated genes are detectable, thus providing early diagnosis and early treatment, and preventing gonad tumours.

Key words: gonadal dysgenesis, 46, xy, complete androgen insensitivity, HCG- associated - hyperthyroidism

中图分类号:

R588

谢新荣, 甘精华, 覃睿, 钟慕贤. 雄激素受体不敏感综合征合并绒癌及人绒毛膜促性腺激素相关甲亢1例并文献复习[J]. 临床荟萃, 2023, 38(7): 628-632.

Xie Xinrong, Gan Jinghua, Qin Rui, Zhong Muxian. Androgen insensitivity syndrome combined with choriocarcinoma and human chorionic gonadotropin-induced hyperthyroidism: A case and literature review[J]. Clinical Focus, 2023, 38(7): 628-632.

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链接本文: https://huicui.hebmu.edu.cn/CN/10.3969/j.issn.1004-583X.2023.07.008

https://huicui.hebmu.edu.cn/CN/Y2023/V38/I7/628

图/表 6

参考文献 15

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项目	检查结果
染色体位置	chrX:66941680
转录本外显子	NM_000044;exon6
核苷酸氨基酸	c:2324G>A(p.R775H)
纯合/杂合	hemi
致病性分析	Pathogenic
遗传方式	HLR
疾病/表型	①连锁尿道下裂1型;②部分雄激素不敏感综合征;③雄激素不敏感综合征;④肯尼迪病

项目	检查结果
染色体位置	chrX:66941680
转录本外显子	NM_000044;exon6
核苷酸氨基酸	c:2324G>A(p.R775H)
纯合/杂合	hemi
致病性分析	Pathogenic
遗传方式	HLR
疾病/表型	①连锁尿道下裂1型;②部分雄激素不敏感综合征;③雄激素不敏感综合征;④肯尼迪病

时间	LH (正常值0.084~ 0.481 IU/L)	FSH (正常值1.5~ 12.4 IU/L)	T (正常值1.7~ 8.6 μg/L)	PRL (正常值4.79~ 23.3 μg/L)	E2 (11.3~ 43.2 ng/L)	β-HCG (0~7 IU/L)	P (0.05~ 0.149 μg/L)
2020-7-27(治疗前)	2.4	0.1	14.17	48.05	3000	1257030	4.84
2020-8-19 (手术后半个月)	1.67	11.57	0.39	40.81	8.6	3231	0.22
2020-11-6	83.38	94.6	0.27	23.72	5	22.36	0.08
2021-5-6	45.3	82.29	0.39	24.41	16.79	1.57	0.19

时间	LH (正常值0.084~ 0.481 IU/L)	FSH (正常值1.5~ 12.4 IU/L)	T (正常值1.7~ 8.6 μg/L)	PRL (正常值4.79~ 23.3 μg/L)	E2 (11.3~ 43.2 ng/L)	β-HCG (0~7 IU/L)	P (0.05~ 0.149 μg/L)
2020-7-27(治疗前)	2.4	0.1	14.17	48.05	3000	1257030	4.84
2020-8-19 (手术后半个月)	1.67	11.57	0.39	40.81	8.6	3231	0.22
2020-11-6	83.38	94.6	0.27	23.72	5	22.36	0.08
2021-5-6	45.3	82.29	0.39	24.41	16.79	1.57	0.19

时间	TSH(正常值 0.27~4.2 mIU/L)	FT3(正常值 3.1~6.8 pmol/L)	FT4(正常值 12~22 pmol/L)	TPOAB(正常值 0~30 IU/ml)	TRAB(正常值 0~1.75 IU/L)
2020-7-27(治疗前)	0.01	12.75	60.38	0.72	0.25
2020-8-19(手术后半个月)	0.01	3.83	21.67
2020-9-3	0.56	3.16	0.27	5	22.36