Abstract

Abstract Objectives: to evaluate the bone mass in prepubertal patients with Turner Syndrome (TS) according to height age (HA) and verify the influence of karyotype and adiposity. Methods: retrospective and analytical study of prepubertal TS patients. The variables analyzed were: karyotype, age at bone densitometry (BD), height, body mass index (BMI) and BD result. The result of the BD was corrected using HA. BMI and BD were calculated on Z score for chronological age (CA) and for HA. Results: thirty-seven prepubertal patients were selected and after exclusion criteria, 13 cases between 10 and 13 years old were included in the study. The BD for HA was significantly higher than for CA (0.39 ± 1.18 x −1.62 ± 1.32), without karyotype (p=0.369) and BMI (p=0.697) influence. Conclusion: prepubertal TS patients present normal BD when corrected for HA, without influence of karyotype and BMI.

Highlights

  • Turner Syndrome (TS) is characterized by the presence of an intact X chromosome and the complete or partial loss of the second sex chromosome (X or Y) and is associated with skeletal abnormalities that include short stature, in addition to other clinical manifestations such as characteristic physical features, ovarian failure, early hearing loss, congenital cardiovascular changes, and a higher frequency of other diseases such as hypothyroidism and celiac disease.[1]

  • The results found in this study indicate that, patients with TS present compromised Z-score of bone densitometry (BD) for chronological age (CA) when correction for height age (HA) is performed, the results are within the expected range

  • The association between TS and low bone mineral density/osteoporosis is still controversial in the literature

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Summary

Introduction

Turner Syndrome (TS) is characterized by the presence of an intact X chromosome and the complete or partial loss of the second sex chromosome (X or Y) and is associated with skeletal abnormalities that include short stature, in addition to other clinical manifestations such as characteristic physical features, ovarian failure, early hearing loss, congenital cardiovascular changes, and a higher frequency of other diseases such as hypothyroidism and celiac disease.[1] It has a prevalence of 1 in every 2,000 female live births.2 45,X monosomy is present in around 40% to 50% of cases, while the other cases present mosaicism with one or more additional cell lines (X or Y) and/or structural alterations (X or Y).[1,3]. This is the most used method worldwide, justified by its easiness, speed, reproducibility, precision, safety, low cost, and availability to predict fracture risk.[7]

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