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

Introduction Delayed puberty and delayed skeletal maturation have been implicated as risk factors for the progression of idiopathic scoliosis. Genetic defects (Turner syndrome) and hypothalamic- pituitary disorders are known causes of delayed puberty. Although it is recognized that the incidence of idiopathic scoliosis is elevated in Turner syndrome, human studies regarding the incidence/severity of scoliosis in children with suprasellar, hypothalamic region and pituitary tumours/ disorders is deficient. Methods A medical records search in five Australian states for suprasellar, hypothalamic region and pituitary tumours/disorders was performed. Identified patients underwent clinical or radiological evaluation for scoliosis. Pathology varied from suprasellar-hypothalamic region tumours, pan-hypopituitarism, pituitary tumours and growth hormone deficiency as well as a craniopharyngioma, arachnoid cyst, retinoblastoma and encephalocele. Results Of 23 identified patients, ten are female. Mean age at presentation was 8.4 years. Three have right thoracic scoliosis with a Cobb angle less than 20 degrees. Two are males; one with pituitary hormone deficiency and the other with Cushing’s disease treated with radiotherapy. The only female is on a growth hormone treatment program for idiopathic growth hormone deficiency. Discussion The only female with scoliosis was 12 years old. Delayed puberty could not be linked to either male with scoliosis. Although the incidence of idiopathic scoliosis in this cohort is greater than expected from Caucasian population studies (2–3%), the male preponderance is unusual. No relationship between delayed skeletal maturation and idiopathic scoliosis could be established

Objectives

X-linked hypophosphataemic rickets (XLHR) is a disease of impaired bone mineralization characterized by hypophosphataemia caused by renal phosphate wasting. The main clinical manifestations of the disorder are O-shaped legs, X-shaped legs, delayed growth, and bone pain. XLHR is the most common inheritable form of rickets, with an incidence of 1/20 000 in humans. It accounts for approximately 80% of familial cases of hypophosphataemia and serves as the prototype of defective tubular phosphate (PO4³⁺) transport, due to extra renal defects resulting in unregulated FGF23 activity. XLHR is caused by loss-of-function mutations in the PHEX gene. The aim of this research was to identify the genetic defect responsible for familial hypophosphataemic rickets in a four-generation Chinese Han pedigree and to analyze the function of this mutation.