chromosomal patterns, demographics, clinical features, and karyotype-phenotype correlation in patients with turner syndrome

Background: 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.methods: in a retrospective caseseries using medical records (200117) for our pediatricendocrinology 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 patientgroups 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. results: 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 ychromosome material. among three karyotype groups, clinical symptoms and phenotypes were not significantly different. conclusion: the study found no correlation between the clinical presentation and karyotype variations of ts.