Paediatrics: Turner’s syndrome

Turner’s syndrome

This condition must always be considered in girls pre-senting with short stature, or height below parental target height range. Karyotype confirms the diagnosis.

The majority of girls with Turner’s syndrome will not have the classi-cal phenotype of dysmorphic features and it may be difficult to identify, particularly where there is mosaicism in the karyotype.

·Short stature is frequent. Typically growth rate begins to falter from age 3–5yrs and is due to an underlying skeletal dysplasia.

·Ovarian dygenesis and consequent gonadal failure result in loss of the pubertal growth spurt.

·Mean final height is consistently 20cm below the norm.

Treatment with daily SC injections of high dose recombinant human growth hormone (rhGH 10mg/m²/wk) increases final height, although individual responses are variable. Oral oestrogen (ethinylestradiol) is required to induce puberty between ages 12 and 14yrs. Combination therapy, which also includes the anabolic steroid, oxandrolone, may fur-ther improve final height.