Body composition and bone mineral status in patients with Turner syndrome

Abstract

Turner syndrome (TS) is associated with decreased bone mineral density and increased fracture rate. However, the developmental trajectory of bone density or body composition in patients with TS is still unclear. The present study tested the hypothesis that different karyotypes and/or age contributes to abnormal body composition and decreased bone mineral status parameters in patients with TS. This study included 24 girls with TS, in which 13 girls exhibited X0 karyotype and 11 had mosaicism. Quantitative ultrasound (QUS) assessed the bone mineral status of the calcaneus, including bone mineral density (BMD), amplitude-dependent speed of sound (AD-SOS), broadband ultrasound attenuation (BUA) and InBody 770 assessed body composition. Pearson’s test was performed to correlate measured parameters with patient age. The body composition and bone mineral status parameters were not significantly influenced by patient karyotype. There was a correlation between patient age and AD-SOS (r = −0.61, P = 0.002) and BUA (r = 0.50, P = 0.013) but not BMD (r = −0.19, P = 0.379). In conclusion, there was no effect of karyotype on body composition or body mineral status. Bone mineral status, as evidenced by changes in AD-SOS and BUA, alters with age regardless of karyotype. The developmental trajectory demonstrated in the current study warrants further validation in a longitudinal study.

Rare copy number variants in the genome of Chinese female children and adolescents with Turner syndrome

“…We have recently demonstrated decreased bone mineral status in girls with TS [14]. The pathogenesis of this bone impairment in TS is unclear, and cannot be explained by X-linked chromosomal abnormalities alone.…”

Effect of Hormone Replacement Therapy on Bone Mineral Density and Body Composition in Chinese Adolescent and Young Adult Turner Syndrome Patients

“…Exclusion criteria for our study were other chronic bone diseases which may influence BMD (e.g., osteochondrodysplasia and malignant osteopetrosis), other diseases which may influence BMD (e.g., type 1 or type 2 diabetes, hyperthyroidism, coeliac disease, other thyroid disorders) or treatment with drugs associated with bone metabolism or BMD (e.g., glucocorticoid and growth hormone). Since the karyotype of TS patients is not associated with their BMD status and body composition (14, 15), the present study did not exclude TS patients with mosaicism. The participants were treated and followed by the same physicians in the Divisions of Pediatric Endocrinology and Gynecology Endocrinology of Guangzhou Medical University, Guangzhou Women and Children's Medical Center, China.…”

Musculoskeletal Health in Premature Ovarian Insufficiency. Part Two: Bone

“…Only few investigators have analyzed the BMDkaryotype correlation, and most did not find an association. 43,[64][65][66] By contrast, El-Mansoury et al suggested a possible gene dosage effect as patients with isolated SHOX deficiency,and 45,XO were noted to have more pronounced bone changes compared with those individuals who had mosaicism (45,X/46,XX). 61,67 Moreover, gene transcriptome analysis of 45,XO fibroblasts has revealed other genetic aberrancies that are associated with bone metabolism such as downregulation of bone morphogenetic protein 2 (BMP2), insulin-like growth factor 2 (IGF2), placental growth factor (PGF), prostaglandin-endoperoxide synthase-1 (PTGS1), and secreted frizzled-related protein-1 (SFRP1).…”