Schimke immuno-osseous dysplasia is a multi-system autosomal recessive disorder with variable expression that affects the skeletal, renal, immune, vascular, and haematopoietic systems. Medical therapy is limited especially for more severely affected individuals.

The first treatment trials on patients presenting with Turner syndrome were successful in accelerating growth velocity. It is therefore essential to know the final height of the patients who were treated in order to ascertain whether or not growth hormone treatment increases final height. We are reporting on a group of 117 patients with Turner syndrome whose growth hormone treatment was initiated in 1986. The mean growth hormone dose was 0.74 IU/ kg/week for an average period of 4 years. At the start of treatment, the patients’ chronological age was 12⁹/₁₂ years, height -3.8 ± 1.0 standard deviation scores (SDS) and bone age 10.5 ± 2.1 years. Mean final height was 147.7 ± 5.6 cm, i.e. a gain of 1.5 SDS. We noted no significant difference due to the type of chromosomal abnormality, nor to oxandrolone or estrogen-associated treatment. A significant correlation was found between final height, mean parental height, the duration of the treatment, height SDS at the start of treatment and growth hormone peak during pharmacological stimulation tests. However, there was no correlation between growth hormone dosage, chronological age and bone age at the start of treatment. These results show that the growth hormone treatment improves the final heights of patients with Turner syndrome.

We compared the impact of a conditioning regimen with BU (n=16) or fractionated TBI (n=42) on height growth during adolescence and final height (FH), in 58 adults transplanted for acute leukaemia before adolescence (younger than 9 for girls and 11 for boys, and prepubertal). Heights were measured at three key periods, that is, transplantation, before adolescence, and FH, and compared using height standard deviation score (SDS) and cumulative change in SDS. The influence of the conditioning regimen was assessed using multiple linear regression and adjusting for gender, central nervous system irradiation, age and leukaemia status at transplant and type of transplantation. Overall mean height SDS was near normal at transplantation and before adolescence (0.2+/-0.1 and -0.2+/-0.1, respectively), but decreased to -1.6+/-0.1 at FH. There were significant differences between the TBI and BU groups when comparing FH SDS (-1.8+/-0.2 vs -0.8+/-0.2, P=0.001), mean change in height SDS from transplantation to FH (-2+/-0.1 vs -1.1+/-0.2, P=0.002) and mean change in height SDS during adolescence (-1.6+/-0.1 vs -0.7+/-0.2, P=0.003). We conclude that preparations involving BU, although less toxic than TBI-containing regimens, also have adverse effects on growth, predominantly during adolescence.

The influence of physical and sporting activities (PSA) on idiopathic scoliosis (IS) is still obscure. The aim of this study was to investigate whether such an influence exists and if so, to determine its characteristics. Two hundred and one teenagers with IS and a control group of 192 adolescents completed an epidemiological questionnaire. Those practising gymnastics were more numerous in the IS group than in the control group. Moreover, the practice of gymnastics was chosen before IS was diagnosed. As gymnastic activities are considered neither as a therapy nor as a precursor of IS, the distribution observed could be linked to a common factor that both increases the likelihood of IS and favors the practice of gymnastics. Joint laxity (JL) may be such a common factor, and was therefore tested (wrist and middle finger) on 42 girls with IS and 21 girls of a control group. IS patients, practising gymnastics or not, showed a higher JL than the control group practising gymnastics or not. Furthermore, the groups practising gymnastic activities did not show higher JL levels than the other groups. Children with a high JL could be drawn toward gymnastics because of their ability to adapt to the constraints of this sport. Girls with a high JL may therefore be prone to developing IS. The fact that most teenagers with IS practise gymnastics could be related to a higher JL.