Androgen insensitivity syndrome (AIS) is a rare disorder with X-linked recessive inheritance in 46 XY patients. The clinical manifestations vary between patients, especially regarding external genitalia development. Herein, the case of AIS in a 13-year-old male, who was born with hypospadias and presented to the hospital with gynaecomastia that had developed from 8 years of age, is reported. No micropenis, cryptorchidism or bifid scrotum were found. Testis volume was 12 ml on both sides. His testosterone and luteinizing hormone levels were normal compared with sex- and age-adjusted reference range. His bone age was approximately 13 years according to Greulich-Pyle assessment. Sequence analysis of the androgen receptor ( AR) gene revealed a mutation (c.2041A>G) in exon 4, a novel mutation site in the AR gene. Prediction analysis suggested this to be a disease-causing variant. A milder clinical presentation and normal hormone levels in cases of partial AIS might differ from the usually reported signs and symptoms. A diagnosis of AIS should not be ignored in teenage patients who present with gynaecomastia and hypospadias, but normal hormone levels.

中文翻译：

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少年轻度部分性雄激素不敏感综合征1例

雄激素不敏感综合征 (AIS) 是一种罕见疾病，有 46 名 XY 患者患有 X 连锁隐性遗传。患者之间的临床表现各不相同，特别是在外生殖器发育方面。本文报道了一名 13 岁男性的 AIS 病例，他出生时患有尿道下裂，并因 8 岁时出现的男性乳房发育症入院。未发现小阴茎、隐睾或阴囊裂。两侧睾丸体积均为 12 ml。与性别和年龄调整的参考范围相比，他的睾酮和黄体生成素水平正常。根据 Greulich-Pyle 评估，他的骨龄约为 13 岁。雄激素受体 (AR) 基因的序列分析揭示了外显子 4 中的突变 (c.2041A>G)，这是 AR 基因中的一个新突变位点。预测分析表明这是一种致病变异。部分 AIS 病例的较温和的临床表现和正常的激素水平可能与通常报告的体征和症状不同。对于出现男性乳房发育症和尿道下裂但激素水平正常的青少年患者，不应忽视 AIS 的诊断。