Fetal lower urinary tract obstruction (LUTO) is a congenital condition in which the bladder fails to excrete urine through the urethra. The primary goal of prenatal treatment for LUTO is the prevention of renal impairment and pulmonary hypoplasia. Vesico-amniotic shunt (VAS) has been the fetal intervention of choice; however, VAS has some limitations, including excretion of urine through an unphysiologic bypass and the need for postnatal corrective reoperation. In this study, we present a novel fetal intervention, a “retro-cystoscopic urethral approach,” performed on a male fetus at 20 weeks gestation diagnosed with enlarged bladder and bilateral hydronephrosis. This approach aims to dilate the narrowed urethra by inserting a urinary catheter using guidewire through a fetal cysto scope. The whole procedure was monitored under real-time ultrasonographic guidance. Despite prenatal intervention, the fetus required multiple cystocenteses, and the bladder dilation persisted.Postnatally, he was diagnosed with megacystis microcolon intestinal hypoperistalsis syndrome, a non-obstructive condition which is relatively rare in male infants. Our case emphasizes the compl exity of diagnosing LUTO during the prenatal period. Further studies exploring novel prenatal interven tions should pay more attention to candidate selection. Additionally, a thorough evaluation of organ systems beyond the urinary tract is necessary.

Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022–2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980–2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.

Fetal lower urinary tract obstruction (LUTO) is a congenital condition in which the bladder fails to excrete urine through the urethra. The primary goal of prenatal treatment for LUTO is the prevention of renal impairment and pulmonary hypoplasia. Vesico-amniotic shunt (VAS) has been the fetal intervention of choice; however, VAS has some limitations, including excretion of urine through an unphysiologic bypass and the need for postnatal corrective reoperation. In this study, we present a novel fetal intervention, a “retro-cystoscopic urethral approach,” performed on a male fetus at 20 weeks gestation diagnosed with enlarged bladder and bilateral hydronephrosis. This approach aims to dilate the narrowed urethra by inserting a urinary catheter using guidewire through a fetal cysto scope. The whole procedure was monitored under real-time ultrasonographic guidance. Despite prenatal intervention, the fetus required multiple cystocenteses, and the bladder dilation persisted.Postnatally, he was diagnosed with megacystis microcolon intestinal hypoperistalsis syndrome, a non-obstructive condition which is relatively rare in male infants. Our case emphasizes the compl exity of diagnosing LUTO during the prenatal period. Further studies exploring novel prenatal interven tions should pay more attention to candidate selection. Additionally, a thorough evaluation of organ systems beyond the urinary tract is necessary.

Fetal lower urinary tract obstruction (LUTO) is a congenital condition in which the bladder fails to excrete urine through the urethra. The primary goal of prenatal treatment for LUTO is the prevention of renal impairment and pulmonary hypoplasia. Vesico-amniotic shunt (VAS) has been the fetal intervention of choice; however, VAS has some limitations, including excretion of urine through an unphysiologic bypass and the need for postnatal corrective reoperation. In this study, we present a novel fetal intervention, a “retro-cystoscopic urethral approach,” performed on a male fetus at 20 weeks gestation diagnosed with enlarged bladder and bilateral hydronephrosis. This approach aims to dilate the narrowed urethra by inserting a urinary catheter using guidewire through a fetal cysto scope. The whole procedure was monitored under real-time ultrasonographic guidance. Despite prenatal intervention, the fetus required multiple cystocenteses, and the bladder dilation persisted.Postnatally, he was diagnosed with megacystis microcolon intestinal hypoperistalsis syndrome, a non-obstructive condition which is relatively rare in male infants. Our case emphasizes the compl exity of diagnosing LUTO during the prenatal period. Further studies exploring novel prenatal interven tions should pay more attention to candidate selection. Additionally, a thorough evaluation of organ systems beyond the urinary tract is necessary.

Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022–2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980–2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.

Fetal lower urinary tract obstruction (LUTO) is a congenital condition in which the bladder fails to excrete urine through the urethra. The primary goal of prenatal treatment for LUTO is the prevention of renal impairment and pulmonary hypoplasia. Vesico-amniotic shunt (VAS) has been the fetal intervention of choice; however, VAS has some limitations, including excretion of urine through an unphysiologic bypass and the need for postnatal corrective reoperation. In this study, we present a novel fetal intervention, a “retro-cystoscopic urethral approach,” performed on a male fetus at 20 weeks gestation diagnosed with enlarged bladder and bilateral hydronephrosis. This approach aims to dilate the narrowed urethra by inserting a urinary catheter using guidewire through a fetal cysto scope. The whole procedure was monitored under real-time ultrasonographic guidance. Despite prenatal intervention, the fetus required multiple cystocenteses, and the bladder dilation persisted.Postnatally, he was diagnosed with megacystis microcolon intestinal hypoperistalsis syndrome, a non-obstructive condition which is relatively rare in male infants. Our case emphasizes the compl exity of diagnosing LUTO during the prenatal period. Further studies exploring novel prenatal interven tions should pay more attention to candidate selection. Additionally, a thorough evaluation of organ systems beyond the urinary tract is necessary.

Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022–2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980–2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.

Fetal lower urinary tract obstruction (LUTO) is a congenital condition in which the bladder fails to excrete urine through the urethra. The primary goal of prenatal treatment for LUTO is the prevention of renal impairment and pulmonary hypoplasia. Vesico-amniotic shunt (VAS) has been the fetal intervention of choice; however, VAS has some limitations, including excretion of urine through an unphysiologic bypass and the need for postnatal corrective reoperation. In this study, we present a novel fetal intervention, a “retro-cystoscopic urethral approach,” performed on a male fetus at 20 weeks gestation diagnosed with enlarged bladder and bilateral hydronephrosis. This approach aims to dilate the narrowed urethra by inserting a urinary catheter using guidewire through a fetal cysto scope. The whole procedure was monitored under real-time ultrasonographic guidance. Despite prenatal intervention, the fetus required multiple cystocenteses, and the bladder dilation persisted.Postnatally, he was diagnosed with megacystis microcolon intestinal hypoperistalsis syndrome, a non-obstructive condition which is relatively rare in male infants. Our case emphasizes the compl exity of diagnosing LUTO during the prenatal period. Further studies exploring novel prenatal interven tions should pay more attention to candidate selection. Additionally, a thorough evaluation of organ systems beyond the urinary tract is necessary.

Background/Aims: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors in the stomach. We evaluated the clinical outcomes of endoscopic treatment for gastric GISTs. Methods: This is a single center, retrospective study that enrolled 135 cases of gastric subepithelial tumors (SETs) resected by endoscopic procedures and confirmed as GISTs by histopathology from March 2005 to July 2019. The immediate and long-term clinical outcomes were analyzed retrospectively. Results: The mean patient age was 57.9 years, and the mean tumor size was 2.1 cm. Of the tumors, 43.0% were located in the body, followed by the fundus (26.7%) and cardia (17.0%). Most tumors (85.2%) were resected by endoscopic submucosal dissection, followed by endoscopic mucosal resection (6.7%), submucosal tunneling endoscopic resection (5.9%), and endoscopic full-thickness resection (2.2%). Macroperforation occurred in 4.4% and microperforation in 6.7% of the cases. The R0 resection rate was 15.6%. However, the rate of complete resection by the endoscopic view was 90.4%, of which 54.8% of cases were in the very-low-risk group, followed by the low-risk group (28.1%), intermediate-risk group (11.9%), and high-risk group (5.2%). During 36.5 months of follow-up, recurrence was found in four (3.4%) of the 118 patients who were monitored for more than 6 months (low-risk group, 1/37 [2.7%]; intermediate-risk group, 2/11 [18.2%]; high-risk group, 1/6 [16.7%]). Conclusions Endoscopic treatment of a GIST appears to be a feasible procedure in selected cases. However, additional surgery should be considered if the pathologic results correspond to intermediate- or high-risk groups.

The Committee on Pediatric Bone Health of the Korean Society of Pediatric Endocrinology has newly developed evidence-based clinical practice guidelines for optimizing bone health in Korean children and adolescents. These guidelines present recommendations based on the Grading of Recommendations, which includes the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion. These guidelines include processes of bone acquisition, definition, and evaluation of low bone mineral density (BMD), causes of osteoporosis, methods for optimizing bone health, and pharmacological treatments for enhancing BMD in children and adolescents. While these guidelines provide current evidence-based recommendations, further research is required to strengthen these guidelines.