Chromosomal Patterns, Demographics, Clinical Features, and Karyotype-Phenotype Correlation in Patients with Turner Syndrome

Turner Syndrome (TS) is caused by the complete or partial absence/abnormality of the second X chromosome in some or all cells.The purpose of this study was to assess the correlation between clinical presentation and karyotype variations of X chromosome in TS.

In a retrospective case-series using medical records (2001-17) for our pediatric-endocrinology TS patients, additional data were collected using a questionnaire and detailed physical examination, including demographics, initial presentation, clinical characteristics at diagnosis, height, puberty stage, cardiovascular and renal malformations, uterus and ovary status, and hormonal profile. Three patient-groups of monosomy X (45,X) cases, 45,X/46,XX or 45,X/46,XY mosaicism cases, and cases with other aberrations of X chromosome were compared in this study.

In 57 TS patients (Age range 6 months to 25 years (Mean 11.85±5.1 yrs.)), 3.5% were diagnosed in infancy because of lymphedema and congenital heart disease. Short stature was the initial presentation in 78.9%. On presentation, 94.7% were short. Other referrals included cases with primary amenorrhea (12%), delayed puberty (5.3%), leg edema (1.8%) and congenital heart disease (1.8%). Mean height standard deviation score was 3.7±1.8 SD below mean for age and sex. Overall, 50.9% of cases had all clinical features consistent with TS and 21.1% had no symptoms of TS other than short stature. Of 39 patients in pubertal age, 31.6% had degrees of breast maturity. Most of them had X structural abnormalities (40.3%). However, 33.3% had classic TS. Still, 5.3% had Y-chromosome material. Among three karyotype groups, clinical symptoms and phenotypes were not significantly different.

The study found no correlation between the clinical presentation and karyotype variations of TS.