Turner's syndrome

Turner syndrome (TS) is the most common sex-chromosome abnormality in femal es. Short stature and hypogonadism. are the classical clinical findings. Th e spontaneous final height (FH) ranges between 139 and 147 cm, representing a growth deficit of about 20 cm with respect to the unaffected population. GH therapy improves FH and should be started during childhood at a high do se of about 1 IU/kg/week (range 0.6-2 IU/kg/week). Some authors advocate co mbined therapy with an anabolic steroid at various doses (e.g. oxandrolone 0.05-0.1 mg/kg/day). This treatment results in a significantly increased FH , a large proportion of treated girls reaching a FH of more than 150 cm. Go nadal function is compromised during adolescence in about 80% of girls with TS, whilst in about 20% pubertal development occurs spontaneously. Oestrog en therapy should be started at the age of 13-14 years in hypogonadic patie nts; early onset of treatment (before 12 years) seems to compromise FH. Oth er concerns in these patients are fertility and osteopenia.