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社会性别为女性,以原发性闭经伴性征异常的46,XY性发育异常(DSD)患者,可涉及多种病因,包括单纯性性腺发育不全、雄激素生物合成途径中不同酶的缺陷或雄激素作用缺陷(雄激素不敏感综合征)等。本文报道了1例“四不像”46,XY DSD病例,结合临床推理和基因检测,最终将其归类为特异诊断——睾丸间质细胞(Leydig细胞)发育不全,是由黄体生成素/绒毛膜促性腺激素受体(LHCGR)基因突变,导致Leydig细胞发育不全而不能分泌足够雄激素的罕见病变。在了解其发病机制的基础上,就不难理解其类女性外观而无子宫,雄激素低而黄体生成素和抗苗勒管激素明显升高的特点。在与常见DSD疾病模板比对并发现“不同点”的基础上,基因检测有助于我们找到特异的病变基因,进而明确诊断,拓展疾病谱和提升鉴别诊断能力。
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基本信息:
中图分类号:R711.1
引用信息:
[1]丁蕾蕾,田秦杰,邓姗.LHCGR基因突变致Leydig细胞发育不全患者的临床特点及遗传分析[J].生殖医学杂志,2024,33(11):1523-1529.
基金信息:
北京协和医院·罕见病服务提升公益项目
2024-11-15
2024-11-15