Introduction and Aims: SHOX haploinsufficiency presents with Turner syndrome dysmorphic skeletal features – micrognathia (60%), cubitus valgus (47%), high-arched palate (25%) and Madelung deformity (7%). Idiopathic scoliosis is also present in 11% of Turner syndrome. This clinical observation and radiological study explores the possibility of SHOX haploinsufficiency expression in the scoliotic spine in Turner syndrome.

Method: Turner syndrome presents a mesomelic short stature, thought to result from growth plate dysmorphism, presumably from SHOX gene haploinsufficiency. Forty-five Turner syndrome subjects on the Australian Growth Hormone program were clinically examined for the presence of idiopathic scoliosis. Of another 88 Turner syndrome subjects similarly examined, 46 had received growth hormone and 42 had never received growth hormone. Kosowicz (1959) and Preger (1968) noted irregular vertebral endplates of scoliotic spines in Turner syndrome subjects. This may imply dysmorphic vertebral growth plates. A spinal MRI and plain imaging study of idiopathic scoliosis with/without Turner syndrome was undertaken to examine for vertebral growth plate abnormalities.

Results: This study again demonstrates plain radiographic presence of irregular vertebral endplates of scoliotic spines in Turner syndrome. Spine MR imaging in Turner syndrome failed to clearly demonstrate the growth plates but demonstrated wedge-shaped distal vertebrae in the curve. Similar MR findings were noted in another 20 subjects with various causes of scoliosis. Wedged-shaped intervertebral discs were also noted, but are thought to be secondary changes. Of 87 Turner syndrome subjects from growth hormone programs, 18 (21%) were found to have idiopathic scoliosis. Thirteen of another 46 (28%) subjects who had never received growth hormone were also noted to have idiopathic scoliosis, indicating a combined incidence of 23%. These results contrast with Lippe (1991) and Kim (2001), who noted an incidence of 11% of 163 and 12% of 43 idiopathic scoliosis in Turner syndrome from retrospective observation. However, the incidence of scoliosis (41%) from the radiographic studies of Kosowicz (4/22) and Preger (19/34) is much greater than even the incidence noted clinically from this study.

Conclusion: SHOX haploinsufficiency expression is not yet described in Turner syndrome scoliotic spines, although it has been described in the distal radius (Munns, 2001) in Madelung deformity. The incidence of idiopathic scoliosis in Turner syndrome appears to be much larger than previously recognised, signalling a probable dysmorphic vertebral growth plate cause.

Introduction: Retrospective reports of adverse events following growth hormone administration to short-statured children indicate that the incidence of scoliosis is elevated, largely due to the higher incidence of scoliosis in Turner/other syndromes within the group. The aims of this study are to analyse risk factors for scoliosis in these children.

Methods: Data on 184 of 267 (65%) current and recent Australian children from the Australian OZGROW program was collected in 2001/2002 (from three Australian States). This included medical records (including past history of known scoliosis), growth charts, timing of growth hormone and oestrogen administration and the presence and severity of scoliosis from clinical examination. Growth hormone dosage was controlled by Australian Health Department guidelines. Standard oestrogen dosage was similar for all pubertal girls. The cohort was noted to comprise many varying syndromes, some of whom were pituitary hormone deficient. Potential risk factors for the development of scoliosis were statistically analysed.

Results: Of 45 subjects with Turner Syndrome, 13 (30%) have idiopathic scoliosis and 2 have a hemi-vertebra. Of the other 139 subjects, 15 have scoliosis but 11 have syndromes which would normally be associated with scoliosis. Therefore, the incidence of idiopathic scoliosis in the remaining 128 subjects is 3.1% (4/128), which is within the normal population range. All 4 have mild scoliosis < 20 degrees. For the 139 subjects with idiopathic short stature or a specific syndrome, the age of commencement and total amount of growth hormone and/or oestrogen did not affect the degree of scoliosis.

Discussion: Having Turner Syndrome was the only variable identified as a risk factor for having scoliosis (p< .001). The incidence of scoliosis in growth hormone treated Turner Syndrome subjects is much larger than previously reported (11–12%)^1,2. To the authors’ knowledge, this is the first report derived from non-retrospective data on the incidence of scoliosis in a growth hormone–treated Turner Syndrome population. This stimulated the next study looking at the incidence of scoliosis in growth hormone-treated and non-growth hormone-treated subjects with Turner Syndrome.

Introduction: Following an Australian study on the incidence of scoliosis in a population of short-statured children treated with human growth hormone (conducted during 2001–2002), it was determined that the only risk factor for the presence of idiopathic scoliosis was having Turner/another syndrome. The 30% incidence in Turner syndrome was noted to be much higher than previously reported (11–12%). The aim of this study is to determine the incidence of scoliosis in a group of growth hormone-treated and non-treated Turner Syndrome subjects who attended the International Turner Syndrome Society meeting in Sydney, Australia in July 2003 and to correlate the results with the Australian 2001–2002 results.

Methods: 88 subjects were clinically examined for the presence and severity of idiopathic scoliosis. Their ages ranged from 11 to 60 years. All subjects provided information regarding previous growth hormone and/or oestrogen administration. Anthropometric data including sitting and standing height and arm span was also collated on this cohort.

Results: 13 of 46 (28.3%) subjects who had no growth hormone treatment were found to have scoliosis. Five of 42 (12%) subjects who were growth hormone treated were found to have scoliosis. 12 curves were thoracic, five were thoracolumbar and one was lumbar. The 13 subjects with scoliosis and no growth hormone treatment had curves between10 and 20° Cobb angle. Three growth hormone-treated subjects had curves of 10°, one had a curve of 30° and the last subject had already undergone scoliosis surgery. Combining the results of this study with the three Australian States study from 2001–2002, 18 of 87 (21%) growth hormone-treated Turner syndrome subjects have idiopathic scoliosis. 13 of 46 (28%) non-growth hormone-treated Turner syndrome subjects also have idiopathic scoliosis. Of the total 133 subjects in this cohort, 31 (23%) have idiopathic scoliosis.

Discussion: The incidence of idiopathic scoliosis in Turner syndrome appears to have been understated in previous studies. Data from this study would indicate that treating children who have Turner syndrome with adjuvant human growth hormone does not appear to result in a greater incidence or severity of idiopathic scoliosis. In this relatively small study, two of five children who had previous growth hormone treatment developed larger curves, one requiring corrective scoliosis surgery.