Endocrine complications
Five male and three female participants had short stature. Among males with short stature, one had growth hormone deficiency confirmed by a growth hormone provocative test. Three (8%) participants were diagnosed with primary hypothyroidism which was treated with levothyroxine. Their thyroid functions were normal and stable over the last year. Six (16%) participants had been diagnosed with delayed puberty which spontaneously resolved in all participants. There were no gender differences in the prevalence of endocrine complications.
Fracture history and BMD measures
None of the participants had experienced fracture. The mean LSBMD and TBBMD z-scores of all participants were -1.6 ± 2.3 and -0.7 ± 1.2, respectively. When excluding participants who received prednisolone, the mean LSBMD and TBBMD z-scores were -1.8 ± 2.3 and -0.8 ± 1.3, respectively (Table 2 ). Males had significantly lower LSBMD z-score (-2.6 ± 3.1 vs. -1.3 ± 1.3, p = 0.03) and a trend of lower TBBMD z-score (-1.1 ± 1.5 vs. -0.6 ± 0.9, p = 0.055) compared to females. The prevalence of low LSBMD and TBBMD was 42% and 17%, respectively. Five out of 29 participants (17%) had low BMD at both sites. Males vs. females had non-significant differences in the prevalence of low LSBMD (p = 0.08) and TBBMD (p = 0.14).