Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome

Abstract

Objective: Adult height deficit seen in Turner syndrome (TS) originates, in part, from growth retardation in utero and throughout the first 3 years of life. Earlier diagnosis enables earlier therapeutic intervention, such as with recombinant human GH (r-hGH), which may help to prevent growth retardation. In this open-label, multicentre phase III study, we investigated efficacy and safety in r-hGH treatment in young girls with TS. Subjects and methods: Girls (nZ61) aged !4 years with TS receiving 0.035-0.05 mg/kg per day r-hGH for 4 years were compared with an historical control group (nZ51) comprising untreated, age-and height-matched girls with TS. The main outcome measure was change in height SDS (H-SDS). Other measures included changes in height velocity SDS, IGF1 levels and glucose metabolism. Results: After 4 years, a gain in mean H-SDS of 1.0 SDS (from K2.33G0.73 to K1.35G0.86 SDS) was observed with r-hGH treatment, in contrast to the decrease in mean H-SDS of 0.3 SDS in the control group (from K2.09G0.81 to K2.44G0.73 SDS; P!0.0001). r-hGH treatment was the main predictor of H-SDS gain and accounted for 52% of variability (multivariate analysis). r-hGH was well tolerated. As expected, IGF1 levels rose with treatment. A case of transient glucose intolerance resolved after dietary adaptation. Conclusion: Early treatment with r-hGH helps to prevent natural evolution towards short stature in most girls with TS. IGF1 levels and glucose metabolism should be monitored routinely during r-hGH therapy.

Adult height in girls with Turner syndrome treated from before 6 years of age with a fixed per kilogram GH dose

“…The results of this study confirm that most girls with TS can exhibit an important height improvement during the first years of GH therapy, as also recently reported by other authors in early treated patients (17,18,19). By contrast, long-term auxological results of treatment may not be so positive, as is suggested by our findings.…”

Non‐invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction

“…14 Recent research suggests that there may be advantages to hormone therapy for Turner and Klinefelter syndrome, along with cryopreservation of gametes for individuals with these conditions that may desire a natural conception, but the implementation of these treatment options is not dependent upon prenatal diagnosis. 20,21 As such, NIPT with evaluation of SCA may be best utilized in cases where a clinical indication such as an ultrasound finding or family history is present. The literature does suggest that there is patient interest in prenatal SCA assessment and that it may be a factor in decisions regarding continuation of pregnancy.…”

Sex Chromosome Aneuploidies

“…Early treatment with r-hGH helps to prevent natural evolution towards short stature in most girls with TS. IGF1 levels and glucose metabolism should be monitored routinely during r-hGH therapy (Linglart et al 2011). Hormone replacement therapy for the development of normal female sexual characteristics should be started at age 12-15 years and continued for the long term to prevent coronary artery disease and osteoporosis.…”