45,X/46,X,i(X)q(10)嵌合型Turner综合征2例

Two Cases of Mosaic Turner Syndrome with the Karyotype 45,X/46,X,i(X)(10)

摘要: 目的：探讨嵌合型Turner综合征(45,X/46,X,i(X)(q10))合并生长激素缺乏(GHD)的临床特征、诊断及治疗策略，以提高对该疾病的认识。方法：回顾性分析济宁市第一人民医院内分泌科收治的2例Turner综合征患者的临床特征、实验室检查及染色体核型分布。病例介绍：病例1患者16岁女性，因矮小症(身高 < −2 SD)及原发性闭经就诊。核型为45,X[73]/46,X,i(X)(q10)[27]，伴卵巢发育不全。生长激素激发试验峰值9.47 ng/mL (<10 ng/mL，部分GHD)。rhGH治疗10.5个月后身高增长至155 cm。病例2患者15岁女性，因生长迟缓(身高 < −3 SD)就诊，伴面部多痣、腭弓增高。染色体核型分析显示45,X[40]/46,X,i(X)(q10)[57]。结果：两例患者均存在典型Turner综合征表型及嵌合核型，其中i(X)(q10)可能导致Xp缺失相关症状(如性腺发育不全)。生长激素治疗有效改善身高，未出现明显不良反应。结论：嵌合型Turner综合征需多学科协作诊治。核型分析联合内分泌评估对个体化治疗至关重要，早期重组人生长激素(recombinant human Growth Hormone, rhGH)干预可显著改善成年身高预后。i(X)(q10)嵌合体的表型异质性可能与不同细胞系比例相关，需结合染色体核型与临床特征优化治疗策略，长期随访性腺及代谢功能。

Abstract: Objective: To explore the clinical features, diagnosis and treatment strategies of mosaic Turner syndrome (45,X/46,X,i(X)(q10)) combined with Growth Hormone Deficiency (GHD), in order to enhance the understanding of this disease. Methods: A retrospective analysis was conducted on the clinical features, laboratory tests and karyotype distribution of two Turner syndrome patients admitted to the Endocrinology Department of Jining No. 1 People’s Hospital. Case Presentation: Case 1 was a 16-year-old female who presented with short stature (height < −2 SD) and primary amenorrhea. The karyotype was 45,X[73]/46,X,i(X)(q10)[27], accompanied by ovarian dysgenesis. The peak value of the growth hormone stimulation test was 9.47 ng/mL (< 10 ng/mL, partial GHD). After 10.5 months of rhGH treatment, her height increased to 155 cm. Case 2 was a 15-year-old female who presented with growth retardation (height < −3 SD), accompanied by multiple facial nevi and high palatal arch. Chromosome karyotype analysis showed 45,X[40]/46,X,i(X)(q10)[57]. Results: Both patients had typical Turner syndrome phenotypes and mosaic karyotypes. The i(X)(q10) may lead to Xp deletion-related symptoms (such as gonadal dysgenesis). Growth hormone treatment effectively improved height without obvious adverse reactions. Conclusion: Mosaic Turner syndrome requires multidisciplinary collaboration for diagnosis and treatment. Karyotype analysis combined with endocrine assessment is crucial for individualized treatment. Early intervention with recombinant human Growth Hormone (rhGH) can significantly improve adult height prognosis. The phenotypic heterogeneity of i(X)(q10) chimeras may be related to the proportion of different cell lines. Treatment strategies should be optimized based on karyotype and clinical features, and long-term follow-up of gonadal and metabolic functions is necessary.