Klinefelter syndrome: A case report and literature review

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

Abstract

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

CLC Number:

R691.1

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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URL: https://huicui.hebmu.edu.cn/EN/10.3969/j.issn.1004-583X.2023.06.010

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

Figures/Tables 3

References 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