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.

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.

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.

Purpose: Overweight (OW)/obese girls tend to have an earlier pubertal onset than girls with normal weight. However, only a few studies have reported the progression of puberty in these girls. This study aimed to identify risk factors for rapid pubertal progression in OW/obese girls presenting with precocious breast development. Methods: This retrospective cohort study reviewed the medical records of 110 OW (body mass index [BMI] ≥85th percentile for age and sex) and 213 nonoverweight (NW, BMI <85th percentile for age and sex) girls who presented with breast budding before 8 years of age. OW girls were divided into 2 subgroups: girls with central puberty progression before 9 years of age (OW-RP) and those without (OW-SP). Results: Progression to central puberty before the age of 9 was more common in NW girls than in OW girls (83.8 % vs. 65.2 % in NW vs. OW group, p<0.001), and progression-free survival for 1, 2, and 3 years was higher in the OW group (p<0.001). In a subgroup analysis of OW girls, the OW-RP subgroup had more advanced bone age (BA) at the first visit (p=0.047) and higher initial luteinizing hormone (LH, p=0.010) levels than the OW-SP subgroup. Being NW (p=0.001) and having more advanced BA (p=0.023) at the initial workup were the risk factors for pubertal progression before age 9. Conclusion Pubertal progression seems to be slower in OW girls than in NW girls presenting with precocious breast development. However, it can progress rapidly in OW girls with particularly pronounced BA advancement and high LH levels at the initial workup.

Background: Micropigmentation is a medical tattooing procedure in which pigments are implanted into the superficial dermis using a manual or electrically driven needle. Objective: We aimed to assess the benefit and risk of micropigmentation in the treatment of acral vitiligo refractory to the conventional treatment. Methods: An open-label study was conducted from December 2018 to March 2019. A total of 12 patients with 20 acral vitiligo lesions were treated with micropigmentation using an electric tattooing machine. The micropigmentation treatment was repeated for a few sessions to achieve optimal pigmentation. Color matching between the lesion and peri-lesional skin was assessed using a 4-point grading scale (poor, fair, good, and excellent). Results: Overall, 85% (17 of 20) showed excellent color matching after a median of 2 (range: 1∼5) treatment sessions. The post-treatment color was darker than the surrounding skin immediately after the procedure, but it gradually faded over time. Pain during the procedure was not mild, but local anesthetic injection was not required. Post-treatment erythema and swelling occurred, but they resolved within a few days. No allergic reaction to the pigment or koebnerization of the vitiligo was noted. Conclusion Micropigmentation could be a promising treatment option for refractory acral vitiligo. A few treatment sessions (i.e., retouch) may be required for desired outcomes. The crucial parts of micropigmentation are pigment selection and implantation depth. It does not require injection of local anesthetics and provides immediate treatment effects after the procedure.

Background: In this study, the usefulness of within-subject biological coefficient of variation (CVI) and reference change values (RCVs) for delta check limits were investigated by comparing the population distributionbased delta check limits. Methods: For six tests, including aspartate aminotransferase, alanine aminotransferase, γ-glutamyl transferase, glucose, creatinine, and hemoglobin, the RCV95%, RCV99%, and RCV99.9% delta limits were obtained. The nonparametric 95% and 99% delta limits were obtained from the population distribution of the delta percentage difference of the health examination group (January 2014 to December 2018) and the outpatient and inpatient groups (January to December 2018). Delta check alerts (%) in total and all three subgroups were examined according to the five different delta check limits. Additionally, we analyzed the correlation of the median CVIF estimates with population-delta check limits for the six tests. Results: The delta percentage difference of the six tests showed a nonnormal distribution, and median value significantly differed among the health examination, outpatient, and inpatient groups (all, P <0.001). The overall delta check alerts of six tests decreased in the order of RCV95%, RCV99%, and RCV99.9%, population distribution -95%, and -99% delta limits; the proportion of the health examination group gradually decreased and that of inpatients increased. A good correlation was observed between median CVI (range, 2.7% to 10.1%) and population distribution delta limits (r =0.96 to 0.99). Conclusions The RCV delta check limits should be applied differently depending on the health and disease group. CVI can be useful for estimating the delta check limits of the population.

Background: In recent years, large amounts of data generated by patients have been accumulated on social media.We explored patients’ perspectives and experiences with vitiligo using web scraping data from the open internet community, NAVER Cafe. Objective: To understand patients’ real concerns and thoughts about vitiligo. Methods: Using vitiligo as a keyword, 1000 posts on NAVER Cafe were collected and categorized as follows: requests for recommendations for dermatology clinics; inquiries regarding vitiligo diagnosis, disease characteristics of vitiligo, and management of vitiligo; and advertisements. Essential contents were collected for each category to summarize patients’ perspectives and experiences. Results: Of the 1000 posts, 284 were requests for clinical recommendations, 203 inquiries for diagnosis of their white spots, 132 inquiries regarding characteristics of vitiligo, 118 described experiences and emotions related to vitiligo, 105 inquiries regarding management of vitiligo, 103 advertisements, and 55 not related to vitiligo.Concerning the authors, 209 and 522 posts were written by patients and parents of children with vitiligo, respectively. Conclusion Patients with vitiligo have considerable concerns regarding their condition and actively communicate with each other through social media. Data mining on social media can provide a deeper understanding of patients’ thoughts and emotional distress with vitiligo as well as their families’.

Background: In recent years, large amounts of data generated by patients have been accumulated on social media.We explored patients’ perspectives and experiences with vitiligo using web scraping data from the open internet community, NAVER Cafe. Objective: To understand patients’ real concerns and thoughts about vitiligo. Methods: Using vitiligo as a keyword, 1000 posts on NAVER Cafe were collected and categorized as follows: requests for recommendations for dermatology clinics; inquiries regarding vitiligo diagnosis, disease characteristics of vitiligo, and management of vitiligo; and advertisements. Essential contents were collected for each category to summarize patients’ perspectives and experiences. Results: Of the 1000 posts, 284 were requests for clinical recommendations, 203 inquiries for diagnosis of their white spots, 132 inquiries regarding characteristics of vitiligo, 118 described experiences and emotions related to vitiligo, 105 inquiries regarding management of vitiligo, 103 advertisements, and 55 not related to vitiligo.Concerning the authors, 209 and 522 posts were written by patients and parents of children with vitiligo, respectively. Conclusion Patients with vitiligo have considerable concerns regarding their condition and actively communicate with each other through social media. Data mining on social media can provide a deeper understanding of patients’ thoughts and emotional distress with vitiligo as well as their families’.