摘要： 目的·分析45，X/46，XY性染色体嵌合患儿的临床特点，提高对该病的认识及诊治能力。方法·回顾性分析2014年1月至2020年12月在苏州大学附属儿童医院通过G显带染色体核型分析及荧光原位杂交（fluorescence
in situ hybridization，FISH）等方法确诊的45，X/46，XY性染色体嵌合患儿的临床表现、性激素水平、性腺病理等。结果·共有23例患儿明确诊断为45，X/46，XY性染色体嵌合，其中11例为女性表型，12例为男性表型。其中12例患儿G显带染色体核型分析可明确诊断，10例患儿需结合FISH明确诊断，仅1例患儿通过微阵列比较基因组杂交技术明确诊断。初诊年龄为（0.3~14.9）岁，女性表型患儿平均初诊年龄为（9.3±3.9）岁，大于男性表型患儿［（4.4±3.7）岁，
P<0.05］。所有1岁以上患儿均存在不同程度的生长迟缓，女性表型患儿矮小程度更严重。女性表型患儿中3例存在阴蒂增大，其余患儿外生殖器外观无男性化表现；女性表型患儿外生殖器男性化评分（external masculinization core，EMS）为0~2.5分。12例男性表型患儿均处于青春前期状态，4例存在尿道下裂合并隐睾，3例存在单纯尿道下裂，3例存在小睾丸，2例外生殖器无异常。男性表型患儿的EMS为4~12分，平均分为10.5分。女性表型患儿均存在高促性腺激素性性腺功能减退，男性表型患儿促性腺激素水平大多与年龄相匹配。有3例患儿出现性腺母细胞瘤，均为女性表型患儿。结论·45，X/46，XY性染色体嵌合患儿临床表现多样；应重视该类患儿性腺肿瘤的发生；EMS对患儿临床评估有指导意义。
关键词: 染色体嵌合, 身材矮小, 性腺肿瘤, 荧光原位杂交, 外生殖器男性化评分 Abstract: Objective·To analyze the clinical features of the patients with 45,X/46,XY mosaicism, and improve the understanding, diagnosis and treatment of the disease.
Methods·The clinical manifestations, the level of sex hormones, and the gonads pathology of the patients with 45,X/46,XY mosaicism diagnosed by G-banding karyotype analysis and fluorescence in situ hybridization (FISH) were retrospectively analyzed, who were admitted in Children's Hospital of Soochow University from January 2014 to December 2020.
Results·Twenty-three patients with 45,X/46,XY mosaicism were included, among whom 11 cases were the female phenotype, and 12 cases were the male phenotype. In these patients, 12 patients were diagnosed by G-banding karyotype analysis, 10 patients were diagnosed by FISH, and only 1 patient was diagnosed by array-based comparative genomic hybridization. The age of the first diagnosis was 0.3?14.9 years. The mean age of the patients with the female phenotype was (9.3±3.9) years, which was bigger than that of the male phenotype [(4.4±3.7) years, P<0.05]. All the patients above 1 year old had different degrees of short stature, especially in the female phenotype patients. In the female phenotype patients, three patients had clitoromegaly, while the other patients had no masculine appearance of external genitalia. The external masculinisation scores (EMS) of the patients with the female phenotype were 0?2.5. Twelve patients with the male phenotype were in pre-adolescent state, among whom 4 patients had hypospadias combined with cryptorchidism, 3 patients had hypospadias, 3 patients had small testicles, and 2 patients had normal external genitalia. The EMS of them ranged from 4 to 12, with a mean score of 10.5. All the patients with the female phenotype had hypergonadotropic hypogonadism, while most of the patients with the male phenotype had gonadotropin levels matched with their age. There were 3 patients with the female phenotype having gonadoblastomas.
Conclusion·The 45,X/46,XY mosaicism patients present a wide spectrum of manifestations. The risk of gonadal malignancy onset should be emphasized. EMS has guiding significance for clinical evaluation of these patients.
Key words: chromosome mosaicism, short stature, gonadal malignancy, fluorescence in situ hybridization (FISH), external masculinization score (EMS) PDF全文下载地址:
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