Background: Turner syndrome (TS) is a common chromosomal abnormality, which is caused by loss of all or part of one X chromosome. Hormone replacement therapy in TS is important in terms of puberty, growth and prevention of osteoporosis however, such a study has never been conducted in Korea. Therefore, the purpose of our study was to determine relationship between the starting age, duration of estrogen replacement therapy (ERT) in TS and develop a hormone replacement protocol suitable for the situation in Korea. Methods: This is retrospective study analyzed the medical records in TS patients treated at the Severance hospital, Yonsei University College of Medicine, Seoul, Korea from 1997 to 2019. Total of 188 subjects who had received a bone density test at least once were included in the study. Korean National Health and Nutrition Examination Survey (KNHANES) was used for achieving bone mineral density (BMD) of normal control group. Student’s t-test, MannWhitney U test, ANOVA and correlation analysis were performed using SPSS 18.0. Results: Each BMD measurement was significantly lower in women with TS than in healthy Korean women. Early start and longer duration of ERT is associated with higher lumbar spine BMD but not femur neck BMD. Femur neck BMD, but not lumbar spine BMD was significantly higher in women with mosaicism than 45XO group. Conclusion Early onset and appropriate duration of hormone replacement therapy is important for increasing bone mineral density in patients with Turner syndrome. Also, ERT affects differently to TS patients according to mosaicism.

Background/Aims: Recent evidence has identified the significance of type 2 iodothyronine deiodinase (DIO2) in various diseases. However, the role of DIO2 polymorphism in metabolic parameters in patients with hypothyroidism is not fully understood. Methods: We assessed the polymorphism of the DIO2 gene and various clinical parameters in 118 patients who were diagnosed with hypothyroidism from the Ansan-Anseong cohort of the Korean Genome and Epidemiology Study. Furthermore, we systematically analyzed Genotype-Tissue Expression (GTEx) data. Results: A total of 118 participants with hypothyroidism were recruited; 32 (27.1%) were homozygous for the Thr allele, 86 (73.9%) were homozygous for the Ala allele or heterozygous. Patients with hypothyroidism with DIO2 polymorphism without hypertension at baseline had higher incidence of hypertension compared to patients without DIO2 polymorphism. Analysis of the GTEx database revealed that elevation of DIO2 expression is associated with enhancement of genes involved in blood vessel regulation and angiogenesis. Conclusions Commonly inherited variation in the DIO2 gene is associated with high blood pressure and prevalence of hypertension in patients with hypothyroidism. Our results suggest that genetic variation in the hypothalamic-pituitary-thyroid pathway in influencing susceptibility to hypertension.

Objective: We investigated the agreement between anti-Müllerian hormone (AMH) levels measured with revised Gen II (rev-Gen II) and automated AMH (Access) assays and evaluated the reproducibility of each method under various blood/serum storage conditions. Methods: AMH levels in blood samples from 74 volunteers were measured by rev-Gen II and Access assays under various conditions: immediate serum separation and AMH measurement (fresh control); serum stored at –20 °C and AMH measured after 48 hours, 1 week, and 2 years; serum stored at 0 to 4 °C and AMH measured after 48 hours and 1 week; and blood kept at room temperature and delayed serum separation after 48 hours and 1 week, with immediate AMH measurement. Results: In fresh controls, all rev-Gen II-AMH values were higher than comparable Access-AMH values (difference, 8.3% to 19.7%). AMH levels measured with the two methods were strongly correlated for all sample conditions (r=0.977 to 0.995, all p<0.001). For sera stored at –20 °C or 0 to 4 °C for 48 hours, Access-AMH values were comparable to control measurements, but rev-Gen II-AMH values were significantly lower. AMH levels in sera stored at –20 °C or 0 to 4 °C for 1 week were significantly lower than in fresh controls, irrespective of method. Across methods, long-term storage at –20 °C for 2 years yielded AMH measurements significantly higher than control values. When serum separation was delayed, rev-Gen II-AMH values were significantly lower than control measurements, but Access-AMH values varied. Conclusion The rev-Gen II and Access-AMH assays showed varying reproducibility across blood/serum storage conditions, but automated Access yielded superior stability to rev-Gen II.

Objectives: This study used the Korean National Health and Nutrition Examination Survey (KNHANES) to determine the association between fractures and low muscle mass. Methods: This cross-sectional study used the 2010–2011 KNHANES data. Low muscle mass was defined as (appendicular skeletal muscle mass [kg]/Height2 [m2 ]) < 5.45 kg/m2 , which is < 2 SD below the sex-specific mean of a young reference group. Patients with T-scores between –1.0 and –2.5 indicated osteopenia, whereas those with T-scores lower than –2.5 indicated osteoporosis. Results: Out of 1,306 women enrolled in the study, 330 were diagnosed with low muscle mass according to the abovementioned diagnostic criterion. The prevalence of fractures at various sites was significantly higher in postmenopausal women with low muscle mass than in those without low muscle mass (relative risk [RR], 1.64; odds ratio [OR], 1.62; 95% confidence interval [CI], 1.06–2.48; P = 0.027). Furthermore, the prevalence of fractures was increased by the presence of osteopenia or osteoporosis in addition to low muscle mass (RR, 1.59; OR, 1.60; 95% CI, 1.02–2.49; P = 0.039) and by osteoporosis only (RR, 2.12; OR, 2.29; 95% CI, 1.11–4.70; P = 0.025). Conclusions Fracture was more prevalent in postmenopausal women with low muscle mass than in those without low muscle mass.This finding is consistent in a subgroup analysis that included women who had osteoporosis or osteopenia. Moreover, the risk of fractures increased as low muscle mass worsened.

Objective: We aimed to determine whether ovarian-preserving surgery for adnexal torsion helps preserve ovarian function without increasing the risk of postoperative complications. Methods: We retrospectively evaluated 71 women who were surgically diagnosed with adnexal torsion between January 2015 and December 2019 at Severance Hospital, Yonsei University College of Medicine (ovarian preservation group, 56; oophorectomy, 15). Serum anti-Müllerian hormone (AMH) levels measured within 6 months before surgery were compared to levels measured 6-24 months after surgery. Surgical findings and postoperative complications were compared between the groups. Results: There was a borderline significant difference in the decrease in serum AMH levels between the oophorectomy group and ovarian preservation group before and after surgery. There were no significant differences between the groups in terms of fever, infection, or duration of admission. Discoloration of the twisted ovary was found in 27.3% and 33.3% of the patients in the ovarian preservation and oophorectomy groups, respectively. There was no difference in the decrease in serum AMH levels between patients with and those without discoloration. Conclusion Ovarian-preserving surgery may not increase postoperative complications in patients with adnexal torsion, even if a twisted mass is suspected to be necrotic. Moreover, the ovarian reserve may not be affected by torsion if the ovary is preserved. Conservative ovarian surgery can be safely performed to preserve the reproductive potential of women with adnexal torsion and cystic masses.

Tibolone, a selective tissue estrogenic activity regulator, is a synthetic steroid with distinct pharmacological and clinical characteristics in contrast to conventional menopausal hormone therapy. Tibolone induces estrogenic activity in the brain, vagina, and bone but remains inactive in the endometrium and breast. In particular, several studies have investigated whether tibolone usage increases the risk of breast cancer. This study aims to determine the effects of tibolone on the breast by focusing on the relation between tibolone use and breast cancer. Our investigation emphasizes recent studies, particularly those based on Asian populations.

Background: Single nucleotide polymorphisms (SNPs) are reportedly associated with repeated abortion. Thus, genetic analysis based on race is the key to developing accurate diagnostic tests. This study analyzed the genetic polymorphisms of recurrent pregnancy loss (RPL) patients among Korean women compared to the controls. Methods: In 53 women of RPL group and 50 controls, the genetic analysis was performed.The genotype distribution and allele frequency were analyzed statistically for the difference between the two groups. The association between each SNP marker and RPL risk was analyzed. Results: The genotypes of LEPR, endothelial nitric oxide synthase (eNOS), KDR, miR-27a, miR-449b, and tumor necrosis factor-alpha (TNF-α) were analyzed using odds ratio (OR) with 95% confidence intervals (CIs). Only the AG genotype of miR-449b (A>G) polymorphism showed significant association with the risk of RPL when compared to the AA genotype (OR, 2.39). The combination of GG/AG+GG/CA+AA genotypes for eNOS/ miR-449b/TNF-α was associated with 7.36-fold higher risk of RPL (OR, 7.36). The GG/ AG+GG combination for eNOS/miR-449b showed 2.43-fold higher risk for RPL (OR, 2.43). The combination of AG+GG/CA+AA genotypes for miR-449b/TNF-α showed a significant association with the risk of RPL (OR, 7.60). From the haplotype-based analysis, the G-G-A haplotype of eNOS/miR-449b/TNF-α and the G-A haplotype of miR-449b/TNF-α were associated with increased risk of RPL (OR, 19.31; OR, 22.08, respectively). Conclusion There is a significant association between the risk of RPL and miR-449b/TNF-αcombination, and therefore, genetic analysis for specific combined genotypes can be an important screening method for RPL in Korean women.

Theca lutein cysts are rare, benign lesions responsible for gross cystic enlargement of both ovaries during pregnancy. This condition is also termed hyperreactio luteinalis. Elevated human chorionic gonadotropin (hCG) levels or states of hCG hypersensitivity seem to promote these changes, which in up to 30% of patients produce clinical signs of hyperandrogenism. Given the self-limiting course of theca lutein cysts, which are subject to spontaneous postpartum resolution, conservative treatment is the mainstay of patient management. Described herein is a rare case of theca lutein cysts with maternal virilization that failed to regress by 9 months after childbirth. Surgical intervention was eventually undertaken, necessitated by adnexal torsion.

Purpose: This study aimed to investigate whether the number of parity is associated with the prevalence of sarcopenia in postmenopausal women. Methods: This study was performed using data from the 2010-2011 Korean National Health and Nutrition Examination Survey that included 1,338 postmenopausal women aged 46-70 years. The prevalence of sarcopenia was analyzed according to the number of births. Modifiable risk factors were evaluated to determine the association of parity with sarcopenia in susceptible population. Results: The sarcopenia group (n=343) had lower number of parity, lower body mass index, more frequent previous history of diabetes mellitus, higher Homeostatic Model Assessment of Insulin Resistance (HOMA-IR), and higher education level than the non-sarcopenia group (n=995). The sarcopenia risk was significantly lower in postmenopausal women with a higher number of parity (≥3 births) (model 1: odds ratio [OR]=0.308; 95% confidence interval [CI]=0.115–0.827, p=0.0194; model 2: OR=0.269; 95% CI=0.109–0.66, p=0.0042; model 3: OR=0.640; 95% CI=0.428–0.957, p=0.0295; model 4: OR=0.636; 95% CI=0.413–0.980, p=0.0403). In subgroup analysis of the lower parity group, moderate aerobic activity was associated with a lower sarcopenia prevalence (OR: 0.52; 95% CI: 0.317–0.852; p=0.0095). Conclusion A lower number of parity increases the risk of sarcopenia in postmenopausal Korean women. Moderate aerobic activity may be effective in preventing sarcopenia in postmenopausal women with lower parity who are more susceptible to sarcopenia.