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Purpose: In South Korea, investigations into Turner syndrome (TS) prevalence and TS-associated cancer and mortality are lacking. Accurate data were estimated from the National Health Insurance Service (NHIS) and the Rare Diseases Registry (RDR) records., Materials and Methods: Data on patients with TS who were registered in the RDR between 2007 and 2017 were collected. To estimate TS-associated cancer and mortality risk, the data were compared with data of 1:3 age-matched controls., Results: In 2017, 2054 patients with TS were identified from a total population of 26186952 South Korean women; therefore, the prevalence was 7.84 per 100000 persons. TS prevalence across 10-year interval age groups were 11.82, 23.17, 18.37, 10.49, 4.09, and 0.38 for age under 10 years, teenagers, 20s, 30s, 40s, and older than 50, respectively (per 100000 persons). The cancer risk in patients with TS was higher than that of age-matched controls over 5.3 person-years [hazard ratio (HR)=1.82, 95% confidence interval (CI) 1.01-3.27, p =0.045]. Among different types of cancer, thyroid cancer risk in patients with TS was significantly higher than that of age-matched controls (HR=2.78, 95% CI 1.06-7.26, p =0.037). We also observed that TS-associated all-cause mortality risk was higher than that of age-matched controls (HR=3.36, 95% CI 1.59-7.10, p =0.002)., Conclusion: National prevalence of TS was suggested, and an increased risk of TS-associated thyroid cancer and mortality were observed in this study., Competing Interests: The authors have no potential conflicts of interest to disclose., (© Copyright: Yonsei University College of Medicine 2022.)

Development of anesthesiology and improvement of surgical instruments enabled aggressive surgical treatment even in elderly patients, who require more active physical activities than they were in the past. However, there are controversies about the clinical outcome of spinal surgery in elderly patients with spinal stenosis or spondylolisthesis. The purpose of this study is to review the clinical outcome of spinal surgery in elderly patients with spinal stenosis or spondylolisthesis. MEDLINE search on English-language articles was performed. There were 39685 articles from 1967 to 2013 regarding spinal disease, among which 70 dealt with geriatric lumbar surgery. Eighteen out of 70 articles dealt with geriatric lumbar surgery under the diagnosis of spinal stenosis or spondylolisthesis. One was non-randomized prospective, and other seventeen reports were retrospective. One non-randomized prospective and twelve out of seventeen retrospective studies showed that old ages did not affect the clinical outcomes. One non-randomized prospective and ten of seventeen retrospective studies elucidated postoperative complications: some reports showed that postoperative complications increased in elderly patients, whereas the other reports showed that they did not increase. Nevertheless, most complications were minor. There were two retrospective studies regarding the mortality. Mortality which was unrelated to surgical procedure increased, but surgical procedure-related mortality did not increase. Surgery as a treatment option in the elderly patients with the spinal stenosis or spondylolisthesis may be reasonable. However, there is insufficient evidence to make strong recommendations regarding spinal surgery for geriatric patients with spinal stenosis and spondylolisthesis.

Purpose: School screening allows for early detection and early treatment of scoliosis, with the purpose of reducing the number of patients requiring surgical treatment. Children between 10 and 14 years old are considered as good candidates for school screening tests of scoliosis. The purpose of the present study was to assess the epidemiological findings of idiopathic scoliosis in 11-year-old Korean adolescents., Materials and Methods: A total of 37856 11-year-old adolescents were screened for scoliosis. There were 17110 girls and 20746 boys. Adolescents who were abnormal by Moire topography were subsequently assessed by standardized clinical and radiological examinations. A scoliotic curve was defined as 10° or more., Results: The prevalence of scoliosis was 0.19% and most of the curves were small (10° to 19°). The ratio of boys to girls was 1:5.5 overall. Sixty adolescents (84.5%) exhibited single curvature. Thoracolumbar curves were the most common type of curve identified, followed by thoracic and lumbar curves., Conclusion: The prevalence of idiopathic scoliosis among 11-year-old Korean adolescents was 0.19%.

Purpose: It has been reported that daily recombinant human growth hormone (GH) treatment showed beneficial effects on growth in prepubertal children with idiopathic short stature (ISS). The present study aimed to validate the GH (Eutropin®) effect on growth promotion and safety after short-term GH treatment., Materials and Methods: This study was an open-label, multicenter, interventional study conducted at nine university hospitals in Korea between 2008 and 2009. Thirty six prepubertal children with ISS were enrolled in this study to receive 6-month GH treatment. Yearly growth rate, height standard deviation score (SDS), and adverse events were investigated during treatment., Results: After 26 weeks of GH treatment, the height velocity significantly increased by 6.36±3.36 cm/year (p<0.001). The lower end of one-sided 95% confidence interval was 5.22 cm/year, far greater than the predefined effect size. The gain in height SDS at week 26 was 0.57±0.27 (p<0.0001). Bone age significantly increased after GH treatment, however, bone maturation rate (bone age for chronological age) showed limited advancement. This 26-week GH treatment was effective in increasing serum levels of insulin-like growth factor (IGF)-I and IGF binding protein (IGFBP)-3 from baseline (p<0.0001). Eutropin was well tolerated and there were no withdrawals due to adverse events. No clinically significant changes in laboratory values were observed., Conclusion: This 6-month daily GH treatment in children with ISS demonstrated increased height velocity, improved height SDS, and increased IGF-I and IGFBP-3 levels with a favorable safety profile.

Purpose: The cervical dynamic rotational plating system may induce bone graft subsidence, so it may cause loss of cervical lordosis. However there were few studies for alignments of cervical spines influencing the clinical results after using dynamic rotational plates. The purpose is to evaluate the effect of graft subsidence on cervical alignments due to the dynamic rotational cervical plates and correlating it with the clinical outcomes of patients undergoing anterior cervical fusion., Materials and Methods: Thirty-three patients with disease or fracture underwent anterior cervical decompression and fusion using a dynamic rotational plate. The presence and extent of implant complications, graft subsidence, loss of lordosis were identified and Visual Analog Scale score (VAS score), Japanese Orthopaedic Association score (JOA score), clinical outcomes based on Odom's criteria were recorded., Results: Fusion was achieved without implant complications in all cases. The mean graft subsidence at 6 months after the surgery was 1.46 mm. The lordotic changes in local cervical angles were 5.85° which was obtained postoperatively. VAS score for radicular pain was improved by 5.19 and the JOA score was improved by 3. Clinical outcomes based on Odom's criteria showed sixteen excellent, ten good and two satisfactory results. There was no significant relationship between clinical outcomes and changes in the cervical angles., Conclusion: Dynamic rotational anterior cervical plating provides comparable clinical outcomes to that of the reports of former static cervical platings. The loss of lordosis is related to the amount of graft settling but it is not related to the clinical outcomes.

Congenital lipoid adrenal hyperplasia (CLAH) is caused by mutations to the steroidogenic acute regulatory protein (StAR) gene associated with the inability to synthesize all adrenal and gonadal steroids. Inadequate treatment in an infant with this condition may result in sudden death from an adrenal crisis. We report a case in which CLAH developed in Korean siblings; the second child was prenatally diagnosed because the first child was affected and low maternal serum estriol was detected in a prenatal screening test. To our knowledge, this is the first prenatal diagnosis of the Q258X StAR mutation, which is the only consistent genetic cluster identified to date in Japanese and Korean populations.