Clinical analysis of karyotypes and phenotypes in 87 cases of Turner syndrome during transitional period

This study aimed to analyze the phenotypic characteristics of patients with Turner syndrome (TS) during the transitional period (12-18 years) and explore associations between clinical manifestations, laboratory findings, imaging features, and karyotypic variations, thereby optimizing clinical management strategies.

Chromosomal G-banding was performed on 87 patients with TS admitted to Wuhan Children's Hospital between January 2008 and December 2024. Patients were divided into Group A (cases with X monosomy, 45, X) and Group B (cases with other X chromosomal abnormalities, including mosaicism and structural anomalies). The clinical, laboratory, and imaging features were compared between the two groups.

Among the 87 patients, 43 (49.43%) were diagnosed with X monosomy, whereas 44 (50.57%) exhibited other X chromosomal abnormalities, including 2 cases (2.29%) with Y chromosome material. Group A exhibited significantly higher rates of facial dysmorphism (95.35% versus 59.09%, P < 0.001), cardiovascular anomalies (41.86% versus 18.18%, P = 0.016), spinal deformities (58.14% versus 34.09%, P = 0.024), renal abnormalities (27.91% versus 4.55%, P = 0.003), and elevated fasting insulin levels (median 9.2 versus 6.7 mIU/mL, P = 0.007) compared to Group B.

Patients with transitional TS exhibit diverse karyotypes, with X monosomy may be associated with more severe phenotypes. Karyotype evaluation may help inform individualized monitoring priorities, particularly for cardiovascular, renal, and metabolic comorbidities. These findings support individualized clinical management and multidisciplinary transitional care informed by karyotype.