Kallmann综合征患者睾丸超声检查1例

D. Donat, Sonja Lukac, I. Bajkin, Ivana Vorgučin, V. Till, Sladjana Zagorac
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摘要

介绍。卡尔曼综合征是一种以促性腺功能减退和嗅觉缺失为特征的遗传性疾病。Kallmann综合征患者循环睾酮水平低,促性腺激素水平低,而其他垂体激素正常。治疗是基于性类固醇替代,目的是恢复正常的青春期发育,包括尝试使用促性腺激素释放激素来恢复生育能力。超声检查睾丸是一个非常有用的补充,以确定和监测精确的睾丸体积,这是一个重要的预后因素,为未来的生育能力。病例报告。18岁时,患者被怀疑患有卡尔曼综合征,并被转介给内分泌学家。经过三个月的睾丸激素治疗后,患者被送去做睾丸超声检查。右睾丸尺寸为16 × 6mm,左睾丸尺寸为10 × 5mm,均具有离散的边缘圆二色信号。在第一次睾丸超声检查一年后,病人来做检查。右睾丸尺寸为14 × 5mm,左睾丸尺寸为11 × 5mm,结构固定。结论。Kallmann综合征的诊断常常被推迟,因为性腺激素促性腺功能减退通常直到青春期才显现出来,而嗅觉缺失的个体通常没有意识到这种感觉缺陷。在这种情况下,较晚的识别综合征,以及较晚的开始治疗,并没有给出令人满意的结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Testicular ultrasound in a patient with Kallmann syndrome: A case report
Introduction. Kallmann syndrome is a genetic disorder marked by hypogonadotropic hypogonadism and anosmia. Patients with Kallmann syndrome have low circulating testosterone levels and low gonadotropin levels, whereas other pituitary hormones are normal. The treatment is based on sex steroid replacement with the aim to restore normal pubertal development and includes attempts to restore fertility by using gonadotropin-releasing hormones. Ultrasound examination of the testicles is a very useful complement to determine and monitor the precise testicular volume, which is an important prognostic factor for future fertility. Case Report. At the age of 18, the patient was suspected of having Kallmann syndrome and was referred to an endocrinologist. After three months of testosterone therapy, the patient was sent for an ultrasound of the testicles. The right testicle measured 16 x 6 mm, the left testicle 10 x 5 mm, both with a discrete marginal circular dichroism signal. One year after the first testicular ultrasound, the patient came for a checkup. The right testicle measured 14 x 5 mm, the left testicle 11 x 5 mm, stationary structure. Conclusion. The diagnosis of Kallmann syndrome is often delayed, because hypogonadotropic hypogonadism is usually not apparent until puberty, and individuals with anosmia are often unaware of this sensory deficit. In this case, late recognition of the syndrome, as well as late initiation of therapy, did not give satisfactory results.
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