Objective: To investigate the clinical, pathological features and differential diagnosis of testicular Leydig cell hyperplasia (LCH) . Methods: Clinical data, histological features, immunohistochemical findings, ultrastructural characteristics and follow-up data were analyzed in three cases of LCH. The cases were collected from 2011 to 2014 at Beijing Children's Hospital. A literature review was performed. Results: Two males (1.8 years and 2.9 years of age) showed isosexual pseudoprecocity with elevated serum testosterone. Imaging study showed bilateral testicular enlargement with multiple small nodules in the parenchyma. Another 13 years-old patient showed male pseudohermaphroditism and cryptorchism. Gross examination showed the bilateral markedly enlarged testis without discrete lesion. Histologically, LCH was seen in both nodular and diffuse patterns without destruction of seminiferous tubules. Adjacent spermatogenesis was noted. Immunohistochemically, the Leydig cells were positive for inhibin, calretinin and Melan A and ultrastructural analysis showed enriched cytoplasmic endoplasmic reticulum. Two cases had followed up for 7 years. One patient was symptom-free and one was stable. Conclusion: LCH is a rare benign condition, which is easily misinterpreted as testicular tumor or non-neoplastic diseases. Clinical presentation, imaging study and pathological evaluation are required for the diagnosis.
目的： 探讨儿童睾丸间质细胞增生的临床、病理诊断及鉴别诊断。 方法： 分析首都医科大学附属北京儿童医院2011至2014年间3例睾丸间质细胞增生的临床资料、病理组织学特点、免疫表型、超微结构特点及预后，并复习相关文献。 结果： 2例男性患儿分别为1.8及2.9岁，表现为同性假性性早熟，血清睾酮升高，影像学示双侧睾丸均匀增大，有多发小结节。另1例为13岁男性假两性畸形、隐睾症患儿。肉眼检查双侧睾丸弥漫增大，却无明确包块。镜下示间质细胞弥漫或结节状增生，但不破坏曲细精管，周围曲细精管有精子形成。免疫组织化学表达抑制素、calretinin、Melan A；超微结构示胞质内有多量内质网。2例随访7年，1例病情平稳，1例无复发；另1例失访。 结论： 睾丸间质细胞增生是罕见的良性病变，易与睾丸肿瘤及其他非肿瘤性疾病混淆，需结合临床、影像、病理检查综合判断。.
Keywords: Diagnosis, differential; Hyperplasia; Leydig cells.