A retrospective multicenter study of bone mineral density in adolescents and adults with Turner syndrome in Japan

Abstract

Osteoporosis is one of the clinical features of women with Turner syndrome (TS). The reasons for low bone mineral density (BMD) and increased bone fragility are multifactorial, including estrogen deficiency, X-chromosome abnormalities, and environmental factors. Few, large-scale studies on bone mineral density in either adolescents or adults with TS have been done in Japan. The goal of the present study was to investigate spinal BMD in women with TS, assess its relationship with clinical parameters, especially estrogen replacement therapy, and investigate its longitudinal changes. The spinal BMD and clinical data of 149 Japanese women with TS aged 15 to 49 years who were followed at the four participating hospitals were retrospectively analyzed. The BMD Z-scores of the women with TS ranged from-5.30 to +1.89. Women with TS aged 15-39 years had lower BMD than healthy Japanese women (p < 0.01) while women with spontaneous menstruation had a significantly higher BMD Z-score than those without spontaneous menstruation (-0.73 ± 1.11 vs.-1.67 ± 1.18, p < 0.01). In women without spontaneous menstruation, BMD Z-scores correlated with the duration of their estrogen therapy (r = 0.167, p < 0.01). Women aged 15-39 years with TS had low BMD, which was associated with primary amenorrhea and short estrogen replacement therapy duration.

Starting age of oestrogen‐progestin therapy is negatively associated with bone mineral density in young adults with Turner syndrome independent of age and body mass index

“…A total of 103 subjects were included. The subjects of this study partially overlap with those reported in our previous study 9 . Major karyotype abnormalities were as follows: 45,X (27.2%), 45,X,i(X) or 45,X/46,X,i(X) (19.4%), 45,X/46,X,idic(X) (13.6%), 45,X/46,XX (10.7%), 45,X/47,XXX (9.7%), 45,X/46,X,r(X) (4.9%) and 45,X/46,XY (3.9%).…”

“…We enrolled subjects with TS aged between 18 and 30 years old in part to exclude the potential effects of age‐related bone loss. We recently reported age‐dependent alterations in bone mineral density in TS aged 18 and 40 years old and found that bone mineral density was maintained during this period 9 ; therefore, age‐related bone loss did not appear to occur during this period. Using these populations, we specifically demonstrated that bone mineral density was higher in subjects with spontaneous menarche than in those without.…”

“…The subjects of this study partially overlap with those reported in our previous study. 9 Major karyotype abnormalities were as follows: 45,X (27.2%), 45,X,i(X) or 45,X/46,X,i(X) (19.4%), 45,X/46,X,idic(X) (13.6%), 45,X/46,XX (10.7%), 45,X/47,XXX (9.7%), 45,X/46,X,r(X) (4.9%) and 45,X/46,XY (3.9%). Other minor karyotype abnormalities included 45,X/46,X,idic(Y), partial X deletions and a mosaic of three or more karyotypes (45,X/46,X,r(X)/46X,dic r(X), 45,X/46,XX/47,XXX, 45,X/46,XX/47,XX,+mar and 45,X/46,X,+mar/47,X,+mar,+r1/48,X ,+mar,+r2).…”

“…Furthermore, there is concrete evidence to show that bone mineral density during young adulthood is important determinant for the risk of osteoporotic fractures later in life. 7,8 We have recently analysed bone mineral density in TS aged between 15 and 49 years of age and found that the duration of oestrogen-progestin therapy was positively associated with bone mineral density 9 ; however, the effects of the starting age of hormone replacement therapy, particularly oestrogen-progestin therapy, on bone mineral density in young adults with TS were not performed.…”

Fracture risk, underlying pathophysiology, and bone quality assessment in patients with Turner syndrome

“…ERT is known to improve BMD in patients with TS, a finding which was borne out by our own study ( 54 ), which compared the BMD Z-score measured by DXA before and after cyclic estrogen and progesterone therapy (Kaufmann therapy) in 18 patients with TS and found an increase in the BMD Z-score after the start of therapy ( 54 ). To the best of our knowledge, no other study has compared BMD before and after Kaufmann therapy in the same subjects.…”