The Effects of Turner Syndrome, 45,X on Obstetric and Neonatal Outcomes: A Retrospective Cohort Evaluation.

Objective This study aims to evaluate the perinatal and neonatal outcomes associated with prenatal diagnosis of 45,X, both with and without fetal cardiac anomalies. Study Design A retrospective cohort of singleton pregnancies in California, 2005 to 2008, using vital statistics and International Classification of Diseases, Ninth Revision data, identifying prenatally diagnosed 45,X. Outcomes included preterm delivery, preeclampsia, intrauterine fetal demise (IUFD), cesarean section, small for gestational age (SGA), neonatal death, and infant death. Bivariate and multivariate analyses were used to compare pregnancies and neonates with and without 45,X. Prenatally diagnosed cardiac anomalies were also considered. Results Of the 2,029,000 deliveries, 138 had prenatally diagnosed 45,X. Out of these 138 deliveries, 22 had a prenatally diagnosed cardiac anomaly. Compared with unaffected pregnancies, those with fetal 45,X had higher rates of preterm delivery (19.5 vs. 9.9%, p = 0.001), cesarean section (44.2 vs. 30.2%, p < 0.0001), and SGA (21.5 vs. 6.3%, p < 0.0001). The affected cohort had no IUFDs. Neonatal death was 14.5 times higher in the 45,X cohort (p < 0.0001). Of only infants with cardiac anomalies, neonatal death was significantly more likely in those with 45,X (p = 0.005). In adjusted analysis, risk of SGA (< 3rd percentile), neonatal death, and infant death remained increased for infants with 45,X while controlling for fetal cardiac anomalies. Conclusion Prenatally diagnosed 45,X was associated with increased risk of cesarean section, and adverse neonatal outcomes, including mortality.

Pediatric growth hormone treatment in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact.

OBJECTIVES: This systematic review aims to describe 1) the epidemiology of the diseases indicated for treatment with growth hormone (GH) in Italy; 2) the adherence to the GH treatment in Italy and factors associated with non-adherence; 3) the economic impact of GH treatment in Italy; 4) the quality of life of patients treated with GH and their caregivers in Italy. METHODS: Systematic literature searches were performed in PubMed, Embase and Web of Science from January 2010 to March 2021. Literature selection process, data extraction and quality assessment were performed by two independent reviewers. Study protocol has been registered in PROSPERO (CRD42021240455). RESULTS: We included 25 studies in the qualitative synthesis. The estimated prevalence of growth hormone deficiency (GHD) was 1/4,000-10,000 in the general population of children; the prevalence of Short Stature HOmeoboX Containing gene deficiency (SHOX-D) was 1/1,000-2,000 in the general population of children; the birth prevalence of Turner syndrome was 1/2,500; the birth prevalence of Prader-Willi syndrome (PWS) was 1/15,000. Treatment adherence was suboptimal, with a range of non-adherent patients of 10-30%. The main reasons for suboptimal adherence were forgetfulness, being away from home, pain/discomfort caused by the injection. Economic studies reported a total cost for a complete multi-year course of GH treatment of almost 100,000 euros. A study showed that drug wastage can amount up to 15% of consumption, and that in some Italian regions there could be a considerable over- or under-prescribing. In general, patients and caregivers considered the GH treatment acceptable. There was a general satisfaction among patients with regard to social and school life and GH treatment outcomes, while there was a certain level of intolerance to GH treatment among adolescents. Studies on PWS patients and their caregivers showed a lower quality of life compared to the general population, and that social stigma persists. CONCLUSION: Growth failure conditions with approved GH treatment in Italy constitute a significant burden of disease in clinical, social, and economic terms. GH treatment is generally considered acceptable by patients and caregivers. The total cost of the GH treatment is considerable; there are margins for improving efficiency, by increasing adherence, reducing drug wastage and promoting prescriptive appropriateness.

[Utilization of growth hormone in Valencia Region, Spain, during the period 2003-2007]. / Utilización de hormona de crecimiento en la Comunidad Valenciana durante el período 2003-2007.

BACKGROUND: The main goal is to analyze the evolution of the consumption of growth hormone (Somatropin) at the Valencia region (Spain). The research focuses on the period comprising 2003-2007 and aims at assessing the impact of the change in the conditions of dispensation of the hormone (May 2005) as well as of the approval of a new indication in 2004. We have also studied the number of treated patients and expenses saved in public money due to the denial of certain treatments. METHODS: The patient data have been obtained from a proprietary database owned by the regions government, this database contains information about the requests for treatment and the consumption of growth hormone has been obtained from database Gaia and drug consumption in the hospital. The data are expressed in terms of number of treated patients, consumed milligrams and cost. RESULTS: The number of patients treated with growth hormone has increased 50% (from 346 patients in 2003 to 520 in 2007). The denial of requests for treatment has made it possible to save 3.912.253 capital JE, Ukrainian. The cost per mg of growth hormone has decreased from 27.35 capital JE, Ukrainian in 2003, when the hormone was dispensed in local pharmacy stores, to 22.34 capital JE, Ukrainian in 2007, when it was dispensed at hospitals pharmacies. The change in the conditions in which the drug is dispensed has led to a reduction of 18.3% considering current costs. CONCLUSIONS: The number of treated patients has increased a 50% from 2003 to 2007. In this period of time has been approved a new indication. The cost/mg has been reduced a 18,3 % due to the change in the conditions of dispensation. The Advisory Committee has contributed to the utilization of growth hormone according to rational drug use criteria.

The quality of life of Turner women in comparison with grown-up GH-deficient women.

Various aspects of the way of life in 20 adult patients (mean age: 25.7 +/- 6.0) with Turner syndrome were studied for their quality of life (QOL). The study found that many more Turner women went on to university (P < 0.01) than the general population, whereas GH-deficient women did not. The employment status of both Turner and GH-deficient women does not differ from that of the general population. Only 7 of the 12 Turner and 5 of the 15 GH-deficient employees are satisfied with their present jobs, but 10 of the former and 7 of the latter women think that their jobs are worthwhile. The total annual income of 3 of 19 Turner women exceeded 3 million yen, but not that of any of 10 GH-deficient women who answered the question on their income. Half of the Turner and GH-deficient women complained of shoulder stiffness and one fourth of the Turner and one fifth of the GH-deficient women have a sense of despair and irritability. Seven Turner and 9 GH-deficient women have anxiety about their body, and 6 of the former and 8 of the latter have anxiety about marriage. Only 4 Turner and 3 GH-deficient women are married. Three of the former marriages were arranged by their parents, but all 3 GH-deficient women got married after falling in love. These marriage rates are significantly lower (P < 0.005) than that of the age-matched general population. Most of the unmarried women in both groups live with their parents, and half of the Turner and one third of the GH-deficient women have difficulty in getting clothes and shoes to fit them. Otherwise, they have no particular problem in their daily life. In conclusion, Turner women are well educated and work as normal women, but they, as well as GH-deficient women, appear to be anxious about their body and marriage.