Adult Height in 299 Patients with Turner Syndrome with or without Growth Hormone Therapy: Results and Literature Review

Abstract

<b><i>Context:</i></b> Treatment with growth hormone (GH) is considered effective in improving adult height (AH) in Turner syndrome (TS). However, there are few studies comparing AH between treated patients and a concurrent untreated group. <b><i>Objective:</i></b> To assess the efficacy of GH treatment in improving AH in TS and to review previous published studies with treated and untreated groups. <b><i>Participants and Methods:</i></b> We retrospectively analyzed clinical data and AH of a large cohort of GH-treated (<i>n</i> = 168) and untreated (<i>n</i> = 131) patients with TS. Data are shown as median and interquartile range (IQR). We assessed pretreatment variables related with AH and compared our results with 16 studies that also included an untreated group. <b><i>Results:</i></b> The GH-treated group was 6.2 cm taller than the untreated group (AH = 149 cm [IQR 144.5–152.5 cm] vs. 142.8 cm [IQR 139–148 cm], <i>p</i> < 0.001) after 4.9 years of GH treatment with a dose of 0.35 mg/kg/week. AH SDS corrected for target height (TH) was 7.2 cm higher in GH-treated patients. AH SDS ≥−2 was more frequent in GH-treated patients (43%) than in untreated patients (16%, <i>p</i> < 0.001). AH SDS was also more frequently within the TH range in the GH-treated group (52%) than in the untreated group (15%, <i>p</i> < 0.001). Height SDS at start of GH therapy and TH SDS were positively correlated with AH (<i>p</i> < 0.001; <i>R</i><sup>2</sup> = 0.375). Considering the current result together with previous similar publications, a mean AH gain of 5.7 cm was observed in GH-treated (<i>n</i> = 696) versus untreated (<i>n</i> = 633) patients. <b><i>Conclusions:</i></b> Our study strengthens the evidence for efficacy of GH therapy in patients with TS from different populations.

Profile of Drug Utilization in Patients with Rare Diseases in Tuscany, Italy: A Population-Based Study

“…In the same year, examining the prevalence estimates of specific substances, the amoxicillin/clavulanic acid combination was the most prescribed product in Group J, with values of prevalence and prescription per 1000 cases of 31.1% and 715.5, respectively, which were almost double those observed in the general population [10], but were comparable with the estimate recorded for the children 0-18 years of age residing in a city in Southern Italy [25]. Another example is provided by the consumption of somatropin (582.9 vs. 15.9 prescriptions per 1000 cases in RD patients and in the Italian general population, respectively) [10], which may be attributable to specific rare conditions such as Turner syndrome, Prader-Willi syndrome, Noonan syndrome and Russell-Silver syndrome, which together represented nearly 30% of the pediatric patients who received at least one prescription of a drug for the nervous system, and in whom long-term growthhormone treatment has been associated with significant improvements in height and body composition [26][27][28][29]. The highest value for consumption was found in Group N, probably as a consequence of the massive use of antiepileptics, particularly valproic acid, for which there were over 1000 prescriptions per 1000 cases (vs. 52.4 prescriptions per 1000 inhabitants in the national pediatric population in 2018) (Italian Medicines Agency, 2019).…”

Challenges of Turner Syndrome Care in Adulthood: A Single Tertiary Center Experience

“…Therefore, the growth hormone effects in our cohort were slightly lower than those in other countries. The largest recent retrospective Brazilian study reported a mean height difference of 6.2 cm between non-treated TS patients and those treated with GHT for approximately five years on a standard dose [17]. A metaanalysis of nine randomized controlled trials using recombinant GHT concluded that treated TS girls were, on average, 7.2 cm taller than non-treated patients [18].…”

Incidence of sex chromosome aneuploidy in a prenatal population: 27‐year longitudinal study in Northern Italy

“…Prenatal ascertainment has been limited primarily to those with serious structural cardiac defects and lymphedema. Women with 45,X may be diagnosed later due to phenotypic differences which are amenable to modification when identified early 35,36 , including: reduced height 37 , pubertal delay 37 , recurrent pregnancy loss and infertility 38,39 .…”