Purpose: 46,XX disorders of sex development (DSD) involve atypical genitalia accompanied by a normal female karyotype. This study was performed to investigate the clinical characteristics and long-term outcomes of patients with 46,XX DSD. Methods: The study included 34 patients with 46,XX DSD who presented with ambiguous genitalia or delayed puberty. Patients with congenital adrenal hyperplasia were excluded. Clinical phenotypes and overall outcomes were analyzed retrospectively. Results: Age at presentation ranged from birth to 40 years (median, 0.6 years), and the follow-up period ranged from 0.3 to 29.7 years (median, 8.8 years). Twenty patients were assigned female (58.8%). Etiologies included disorders of gonadal development (n=22), exogenous androgen exposure during pregnancy (n=5), association with syndromic disorders or genital anomalies (n=2), and unclassified causes (n=5). Ovotestis was the most frequent gonadal pathology (41.7%). Müllerian duct remnants were usually underdeveloped (52.9%) or absent (23.5%). Spontaneous puberty occurred in 17 of the 21 patients of pubertal age, while 9 patients required sex hormone replacement therapy. Gonadal complications were observed in 4 patients (gonadal tumors [n=3], and spontaneous gonadal rupture [n=1]), and gender dysphoria occurred in 1 patient who was assigned male. Conclusion This study described the wide phenotypic spectrum and pubertal outcome of patients with 46,XX DSD. Long-term multidisciplinary monitoring for pubertal development, fertility, gender identity, and gonadal complications is recommended.

Purpose: 46,XX disorders of sex development (DSD) involve atypical genitalia accompanied by a normal female karyotype. This study was performed to investigate the clinical characteristics and long-term outcomes of patients with 46,XX DSD. Methods: The study included 34 patients with 46,XX DSD who presented with ambiguous genitalia or delayed puberty. Patients with congenital adrenal hyperplasia were excluded. Clinical phenotypes and overall outcomes were analyzed retrospectively. Results: Age at presentation ranged from birth to 40 years (median, 0.6 years), and the follow-up period ranged from 0.3 to 29.7 years (median, 8.8 years). Twenty patients were assigned female (58.8%). Etiologies included disorders of gonadal development (n=22), exogenous androgen exposure during pregnancy (n=5), association with syndromic disorders or genital anomalies (n=2), and unclassified causes (n=5). Ovotestis was the most frequent gonadal pathology (41.7%). Müllerian duct remnants were usually underdeveloped (52.9%) or absent (23.5%). Spontaneous puberty occurred in 17 of the 21 patients of pubertal age, while 9 patients required sex hormone replacement therapy. Gonadal complications were observed in 4 patients (gonadal tumors [n=3], and spontaneous gonadal rupture [n=1]), and gender dysphoria occurred in 1 patient who was assigned male. Conclusion This study described the wide phenotypic spectrum and pubertal outcome of patients with 46,XX DSD. Long-term multidisciplinary monitoring for pubertal development, fertility, gender identity, and gonadal complications is recommended.

Purpose: 46,XX disorders of sex development (DSD) involve atypical genitalia accompanied by a normal female karyotype. This study was performed to investigate the clinical characteristics and long-term outcomes of patients with 46,XX DSD. Methods: The study included 34 patients with 46,XX DSD who presented with ambiguous genitalia or delayed puberty. Patients with congenital adrenal hyperplasia were excluded. Clinical phenotypes and overall outcomes were analyzed retrospectively. Results: Age at presentation ranged from birth to 40 years (median, 0.6 years), and the follow-up period ranged from 0.3 to 29.7 years (median, 8.8 years). Twenty patients were assigned female (58.8%). Etiologies included disorders of gonadal development (n=22), exogenous androgen exposure during pregnancy (n=5), association with syndromic disorders or genital anomalies (n=2), and unclassified causes (n=5). Ovotestis was the most frequent gonadal pathology (41.7%). Müllerian duct remnants were usually underdeveloped (52.9%) or absent (23.5%). Spontaneous puberty occurred in 17 of the 21 patients of pubertal age, while 9 patients required sex hormone replacement therapy. Gonadal complications were observed in 4 patients (gonadal tumors [n=3], and spontaneous gonadal rupture [n=1]), and gender dysphoria occurred in 1 patient who was assigned male. Conclusion This study described the wide phenotypic spectrum and pubertal outcome of patients with 46,XX DSD. Long-term multidisciplinary monitoring for pubertal development, fertility, gender identity, and gonadal complications is recommended.

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.

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.

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.

Purpose: This study aimed to elucidate whether microRNA-139-5p is involved in the pathogenesis of uterine leiomyoma. Materials and Methods: Human leiomyoma and matched human smooth muscle samples were obtained from 10 women who underwent hysterectomy for uterine leiomyoma. MicroRNA (miRNA) expression was analyzed by quantitative real-time polymerase chain reaction. To assess the effects of miR-139-5p on cultured leiomyoma cells, cell migration, collagen gel contraction, wound healing, and the expression levels of hallmark proteins were evaluated in cells transfected with a miR-139-5p mimic. Results: The expression of miR-139-5p was significantly lower in leiomyoma tissues than in matched smooth muscle tissues. Restored miR-139-5p expression in miR-139-5p mimic-transfected human leiomyoma cells resulted in decreased contractility of the ECM and cell migration. In addition, upregulation of miR-139-5p decreased the protein expression of collagen type 1 and phosphorylated p38 MAPK. Conclusion Expression of miR-139-5p is downregulated in leiomyoma cells and modulation of miR-139-5p may be involved in the pathogenesis of leiomyomas through the regulation of collagen type 1 and phosphorylated p38 MAPK. Therefore, miR-139-5p is a potential therapeutic target for leiomyoma.

Purpose: This study aimed to elucidate whether microRNA-139-5p is involved in the pathogenesis of uterine leiomyoma. Materials and Methods: Human leiomyoma and matched human smooth muscle samples were obtained from 10 women who underwent hysterectomy for uterine leiomyoma. MicroRNA (miRNA) expression was analyzed by quantitative real-time polymerase chain reaction. To assess the effects of miR-139-5p on cultured leiomyoma cells, cell migration, collagen gel contraction, wound healing, and the expression levels of hallmark proteins were evaluated in cells transfected with a miR-139-5p mimic. Results: The expression of miR-139-5p was significantly lower in leiomyoma tissues than in matched smooth muscle tissues. Restored miR-139-5p expression in miR-139-5p mimic-transfected human leiomyoma cells resulted in decreased contractility of the ECM and cell migration. In addition, upregulation of miR-139-5p decreased the protein expression of collagen type 1 and phosphorylated p38 MAPK. Conclusion Expression of miR-139-5p is downregulated in leiomyoma cells and modulation of miR-139-5p may be involved in the pathogenesis of leiomyomas through the regulation of collagen type 1 and phosphorylated p38 MAPK. Therefore, miR-139-5p is a potential therapeutic target for leiomyoma.

Abortion, Induced ; Abortion, Missed ; Dilatation ; Female ; Gestational Sac ; Humans ; Hysteroscopy ; Pregnancy Trimester, First ; Pregnancy ; Ultrasonography ; Uterus