Turner’s Syndrome: A Paediatric Perspective

Abstract

In childhood the symptoms with the greatest impact on girls with Turner’s syndrome are: (1) congenital cardiac abnormalities (which can be corrected by surgical intervention); (2) short stature (mean adult height between 142 and 147 cm); and (3) ovarian failure (absent spontaneous puberty). Recent studies have shown that growth hormone (GH) treatment in young girls (8 years of age or younger) with Turner’s syndrome results in normalization of adult height in most of the girls when using the ‘standard’ GH dose of about 4 IU/m² per day (≈0.045 mg/kg per day). Higher GH doses (6 or 8 IU/m² per day) or the use of oxandrolone may be more effective, but their efficacy on adult height and safety in the very long term still have to be proven. If GH treatment is started early, low-dose oestrogens for induction of puberty can be given at 12 years of age without interfering with the capability of the GH treatment to normalize adult height. GH does not seem to have negative side effects on body proportions, cardiac dimensions, blood pressure, carbohydrate metabolism or bone mineral density.