LHCGR基因变异致Ⅱ型间质细胞发育不全1例

金柯馨; 苏喆; 焦燕华; 潘丽丽; 江贤萍; 尹鉴淳; 李家强

doi:10.7499/j.issn.1008-8830.2410074

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中国当代儿科杂志 ›› 2025, Vol. 27 ›› Issue (2) : 225-228. DOI: 10.7499/j.issn.1008-8830.2410074

病例报告

LHCGR基因变异致Ⅱ型间质细胞发育不全1例

金柯馨, 苏喆, 焦燕华, 潘丽丽, 江贤萍, 尹鉴淳, 李家强

作者信息 +

Type II Leydig cell hypoplasia caused by LHCGR gene mutation: a case report

JIN Ke-Xin, SU Zhe, JIAO Yan-Hua, PAN Li-Li, JIANG Xian-Ping, YIN Jian-Chun, LI Jia-Qiang

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摘要

患儿，社会性别女性，1岁7个月，临床表现为46,XY性发育异常，外生殖器呈重度男性化不全表型，实验室检查及性腺活检提示睾丸间质细胞功能差而支持细胞功能良好，基因检测发现LHCGR基因存在c.867-2A>C及c.547G>A（p.G183R）复合杂合变异，最终诊断为Ⅱ型间质细胞发育不全。Ⅱ型间质细胞发育不全临床表型谱广，睾丸间质细胞与支持细胞功能不平行，生精功能及性别选择个体化差异大，当睾丸间质细胞功能差而华氏管发育良好时需考虑该病。

Abstract

The patient, assigned female at birth and aged 1 year and 7 months, presented with clinical manifestations of 46,XY disorders of sex development. The external genitalia exhibited a severely undermasculinized phenotype. Laboratory tests and gonadal biopsy indicated poor Leydig cell function and good Sertoli cell function. Genetic testing revealed compound heterozygous mutations of c.867-2A>C and c.547G>A (p.G183R) in the LHCGR gene. The patient was ultimately diagnosed with type II Leydig cell hypoplasia. Type II Leydig cell hypoplasia presents a broad spectrum of clinical phenotypes, characterized by a lack of parallel function between Leydig cells and Sertoli cells, and significant individual variability in spermatogenesis and gender assignment. This condition should be considered when there is poor Leydig cell function but good development of Wolffian duct derivatives.

导出引用

金柯馨, 苏喆, 焦燕华, 潘丽丽, 江贤萍, 尹鉴淳, 李家强. LHCGR基因变异致Ⅱ型间质细胞发育不全1例[J]. 中国当代儿科杂志. 2025, 27(2): 225-228 https://doi.org/10.7499/j.issn.1008-8830.2410074

JIN Ke-Xin, SU Zhe, JIAO Yan-Hua, PAN Li-Li, JIANG Xian-Ping, YIN Jian-Chun, LI Jia-Qiang. Type II Leydig cell hypoplasia caused by LHCGR gene mutation: a case report[J]. Chinese Journal of Contemporary Pediatrics. 2025, 27(2): 225-228 https://doi.org/10.7499/j.issn.1008-8830.2410074

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