Year: 2026
Type: article
Study design: Case Report
Abstract: 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 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.
Source: Medical Diagnosis
Author: 清爱 林
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W7202078370