Klinefelter综合征1例并文献复习

doi:10.3969/j.issn.1004-583X.2023.06.010

临床荟萃 ›› 2023, Vol. 38 ›› Issue (6): 537-540.doi: 10.3969/j.issn.1004-583X.2023.06.010

Klinefelter综合征1例并文献复习

马芙蓉(), 白晋瑜, 徐翔宇, 陈慧

兰州大学第二医院内分泌代谢科,甘肃兰州 730030

收稿日期:2023-01-14 出版日期:2023-06-20 发布日期:2023-08-18
通讯作者: 马芙蓉,Email: mafr@lzu.edu.cn
基金资助:
甘肃省科技计划项目——pYAP1在甲状腺乳头状癌中的表达及临床意义(18JR3RA312)

Klinefelter syndrome: A case report and literature review

Ma Furong(), Bai Jinyu, Xu Xiangyu, Chen Hui

Department of Endocrinology, Lanzhou University Second Hospital, Lanzhou 730030, China

Received:2023-01-14 Online:2023-06-20 Published:2023-08-18
Contact: Ma Furong, Email: mafr@lzu.edu.cn

摘要/Abstract

摘要：

目的探讨Klinefelter综合征的临床特点。方法回顾性分析兰州大学第二医院收治的1例Klinefelter综合征患者的病例资料,并复习相关文献。结果患者为青年男性,双侧乳房增大伴疼痛3年。入院后查体发现男性第二性征发育不全,睾丸硬小,卵泡刺激素、黄体生成素水平显著升高,睾酮水平明显下降,行相关检查后诊断为高促性腺激素性性腺功能减退症,进一步完善染色体核型分析后明确诊断为Klinefelter综合征。给予睾酮替代治疗及雌激素受体拮抗剂治疗后乳腺发育明显缓解。结论 Klinefelter综合征早期诊断率低。早期诊断、及时的睾酮替代治疗对提高患者生活质量有积极影响。临床医师需要加强对Klinefelter综合征的认识。

关键词: Klinefelter综合征, 高促性腺激素性性腺功能减退症, 男性乳腺发育

Abstract:

Objective To investigate the clinical features of Klinefelter syndrome (KS). Methods A case of KS admitted to Lanzhou University Second Hospital was analyzed retrospectively, and the relevant literatures were reviewed. Resultss A young male presented with 3 years of bilateral breast enlargement and pain. After admission, the physical examination found that the male secondary sexual characteristics were hypoplasia, and the testes were small and hard. Follicle stimulating hormone and luteinizing hormone levels significantly increased, and the testosterone level significantly decreased. The patient was diagnosed as hypergonadotropic hypogonadism by relevant examinations, and furthermore, he was precisely diagnosed as KS by chromosome karyotype analysis. After testosterone replacement therapy and estrogen receptor antagonist treatment, breast development was significantly alleviated. Conclusion The early diagnosis rate of KS is low. Early diagnosis and timely testosterone replacement therapy have a positive impact on improving the quality of life of patients with KS. Clinicians should strengthen their understanding of KS.

Key words: Klinefelter syndrome, hypergonadotropic hypogonadism, gynecomastia

中图分类号:

R691.1

马芙蓉, 白晋瑜, 徐翔宇, 陈慧. Klinefelter综合征1例并文献复习[J]. 临床荟萃, 2023, 38(6): 537-540.

Ma Furong, Bai Jinyu, Xu Xiangyu, Chen Hui. Klinefelter syndrome: A case report and literature review[J]. Clinical Focus, 2023, 38(6): 537-540.

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链接本文: https://huicui.hebmu.edu.cn/CN/10.3969/j.issn.1004-583X.2023.06.010

https://huicui.hebmu.edu.cn/CN/Y2023/V38/I6/537

图/表 3

参考文献 19

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项目	缩写	结果	参考值
垂体泌乳素(μg/L)	PRL	9.99	2.10~17.70
卵泡刺激素(IU/L)	FSH	58.000↑	1.400~18.100
黄体生成素(IU/L)	LH	12.510↑	1.500~9.300
睾酮(ng/dl)	TSTO	78.900↓	123.060~813.860
孕酮 (μg/L)	PRGE	0.100↓	0.280~1.220
雌二醇(ng/L)	eE2	<11.8	0~39.8
促肾上腺皮质激素(ng/L)	ACTH	35.70	0~46.00
皮质醇(μg/dl)	COR(8点)	14.60	5.00~25.00
游离三碘甲状腺原氨酸(pmol/L)	FT3	5.73	2.77~6.31
游离甲状腺素 (pmol/L)	FT4	13.51	10.44~24.38
促甲状腺激素 (mIU/L)	TSH	3.502	0.380~4.340

项目	缩写	结果	参考值
垂体泌乳素(μg/L)	PRL	9.99	2.10~17.70
卵泡刺激素(IU/L)	FSH	58.000↑	1.400~18.100
黄体生成素(IU/L)	LH	12.510↑	1.500~9.300
睾酮(ng/dl)	TSTO	78.900↓	123.060~813.860
孕酮 (μg/L)	PRGE	0.100↓	0.280~1.220
雌二醇(ng/L)	eE2	<11.8	0~39.8
促肾上腺皮质激素(ng/L)	ACTH	35.70	0~46.00
皮质醇(μg/dl)	COR(8点)	14.60	5.00~25.00
游离三碘甲状腺原氨酸(pmol/L)	FT3	5.73	2.77~6.31
游离甲状腺素 (pmol/L)	FT4	13.51	10.44~24.38
促甲状腺激素 (mIU/L)	TSH	3.502	0.380~4.340

项目	0 min	30 min	60 min	90 min	120 min
FSH(IU/L)	58.740	97.460	104.390	103.160	117.430
LH(IU/L)	16.660	60.710	59.770	57.520	54.510

项目	0 min	30 min	60 min	90 min	120 min
FSH(IU/L)	58.740	97.460	104.390	103.160	117.430
LH(IU/L)	16.660	60.710	59.770	57.520	54.510

Klinefelter综合征1例并文献复习

Klinefelter syndrome: A case report and literature review

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