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Background: Adolescent obesity remains a challenge with limited treatment options. GLP-1 receptor agonists such as liraglutide (Saxenda®) have shown efficacy in trials, but real-world data in youth are scarce. Methods: This retrospective longitudinal, non-interventional study analyzed 22 adolescents treated with liraglutide in a Swiss pediatric endocrinology center. All received non-structured nutritional/lifestyle counseling with three-monthly follow-up. BMI standard deviation scores (BMI-SDS) and adverse effects were recorded. Results: The mean age at initiation was 14.9 years (range 12.5–17.5); 15 patients had Southern European immigrant background. Mean treatment duration was 8.2 months (range 1–18). BMI-SDS decreased significantly from +2.63 (IQR +2.4/+2.8) to +2.40 (IQR +2.2/+2.6). Median intra-individual reduction was −0.20 (IQR −0.28/−0.10), p = 0.0003 with large effect size (rb = −0.77). Thirteen patients discontinued treatment, mainly due to insufficient weight loss or mild nausea. In the patients continuing therapy BMI-SDS decreased from +2.59 (IQR +2.4/+2.8) to +2.08 (IQR +1.9/+2.4). No serious adverse events occurred. Conclusions: Liraglutide showed a comparable efficacy to the pivotal clinical trial in reducing BMI-SDS in adolescents, while the side-effect profile was similarly mild and consistent with previously reported data. Discontinuation rates remained high, highlighting the need for thorough pre-treatment counseling on expected mild, transient symptoms and strategies to mitigate nausea. Future prospective studies are needed to assess long-term outcomes and identify patient characteristics associated with greater treatment success, to better individualize GLP-1–based therapy in adolescent obesity.

Background/Objectives: The 2019 Swiss growth references for height, weight, and BMI were based on a large dataset from the German-speaking part of Switzerland (Cohort 2019). The current study aimed to ensure national representativeness by proportionate amounts of additional data from the French-speaking (Suisse Romande) and Italian-speaking (Ticino) regions to validate the 2019 growth curves and to update the national growth references. It also investigated the influence of parental migration background on child growth. Methods: Anthropometric data from 43,290 children and adolescents—including 11,816 new cases—were analyzed (Cohort 2019 + 2025). Percentile curves were modeled using the Generalized Additive Models for Location, Scale, and Shape (GAMLSS) framework. Results: The extended dataset largely confirms the 2019 growth references. Variations in height percentiles were small and clinically negligible. Clinically relevant differences in BMI percentiles were observed in girls, with the most pronounced deviations—up to 0.8 kg/m2—at the 97th percentile. Analyses by parental migration background revealed relevant differences in BMI. Conclusions: The extended Swiss Growth References (Cohort 2019 + 2025) are robust and provide valid reference data for all Swiss children and adolescents, offering contemporary tools for decision-making in clinical practice. To maintain their validity over time, targeted updates are required, with special attention to demographic changes resulting from migration.

Background: Monocarboxylate-transporter-8-(MCT8) deficiency, or Allan–Herndon–Dudley syndrome (AHDS), is a rare X-linked disorder caused by pathogenic variants in the SLC16A2 gene, leading to impaired transport of thyroid hormones, primarily T3 and T4, across cell membranes. The resulting central hypothyroidism and peripheral hyperthyroidism cause neurodevelopmental impairment and thyrotoxicosis. Despite the availability of therapy options, e.g., with triiodothyroacetic acid (TRIAC), diagnosis is often delayed, partly due to normal TSH levels or incomplete genetic panels. MCT8 deficiency is not yet included in newborn-screening programs worldwide. Case Description: We present a case of an infant genetically diagnosed with MCT8 deficiency at 5 months of age after presenting with muscular hypotonia, lack of head control, and developmental delay. Thyroid function testing revealed a normal TSH, low free T4, and significantly elevated free T3 and free T3/T4 ratio. Treatment with TRIAC (Emcitate®) was initiated promptly, with close drug monitoring. Despite persistent motor deficits and dystonia, some developmental progress was observed, as well as reduction in hyperthyroidism. Discussion/Conclusions: This case underscores the importance of early free T3 and fT3/fT4 ratio testing in infants with unexplained developmental delay. Broader inclusion of SLC16A2 in genetic panels and consideration of newborn screening could improve early diagnosis and outcomes in this rare but treatable condition.

Background Glucocorticoids are crucial components of the treatment of leukemia and lymphoma. High doses can lead to suppression of the hypothalamic–pituitary–adrenal (HPA) axis and be causative for an impaired stress response during infection. This study aims to evaluate the cortisol response in pediatric oncologic patients during febrile episodes. Methods Totally, 75 children and adolescents (5 months—18 years) with fever during chemotherapy were consecutively enrolled in this study. In total, 47 patients received glucocorticoids as part of their treatment. Random serum cortisol and adrenocorticotropic hormone (ACTH) were analyzed in every patient. A low cortisol response (LCR) was defined as a cortisol level < 14.6 μg/dL. Results In total, 52 (69%) patients had a cortisol level < 14.6 μg/dL during fever. There was no significant difference between patients who received glucocorticoids and those who did not. Significantly lower cortisol levels were measured ≤7 days after last glucocorticoid intake compared to later time points. Nearly all patients treated with dexamethasone or prophylactic posaconazole demonstrated a LCR under stress (fever). Conclusion The incidence of an impaired HPA axis in pediatric cancer patients might be underestimated since 69% of the children in our study had a LCR during fever. Intake of dexamethasone, posaconazole and a time period of ≤7 days from the last glucocorticoid intake were additional risk factors for an LCR. However, we could not confirm that patients with a LCR fared worse than patients with a high cortisol response (HCR). Therefore, a different cortisol threshold may be necessary for defining an impaired HPA axis in febrile oncologic patients without concomitant symptoms of AI. The adrenal gland's response to stress is impaired in most pediatric cancer patients receiving chemotherapy, whether or not they are taking steroids. Intake of dexamethasone and posaconazole and a time period of ≤7 days from the last glucocorticoid intake were additional risk factors for an impaired adrenal response.

Patients with congenital adrenal hyperplasia require lifelong therapy with glucocorticoids to suppress androgen excess and substitute for deficient cortisol. An important aspect of care is the prevention of metabolic sequelae. In infants, potentially lethal nocturnal hypoglycaemia has been described. In adolescence, visceral obesity, hypertension, hyperinsulinism and insulin resistance come into focus. To date, systematic studies of glucose profiles are lacking. We conducted a monocentric prospective observational study to determine the glucose profiles under different treatment regimens. We used the latest generation FreeStyle Libre 3® sensor in blinded mode as a device for CGM. Furthermore, therapeutic/ auxological data were obtained. Our cohort of 10 children/ adolescents had a mean age of 11 years. Three patients showed morning fasting hyperglycaemia. Overall, 6 out of 10 patients had too little total values in the desired range of 70-120 mg/dl. Tissue glucose values above 140-180 mg/dl were found in 5 of 10 patients. All patients had an average value for glycosylated haemoglobin of 5.8 %. All pubertal adolescents with reverse circadian regimens had significantly higher glucose levels at night. Two adolescents showed asymptomatic nocturnal hypoglycaemia. A high number of subjects showed abnormalities in glucose metabolism. Two-thirds had elevated total 24h glucose values outside the age-appropriate reference values. Thus, this aspect may need to be addressed early in life by adjusting the doses, treatment regimen or dietary measures. Consequently, reverse circadian therapy regimens should be critically indicated and closely monitored due to the potential metabolic risk.

Abstract Context Several studies have highlighted the importance of the 11-oxygenated 19-carbon (11oxC19) adrenal-derived steroids as potential biomarkers for monitoring patients with 21-hydroxylase deficiency (21OHD). Objective To analyze circadian rhythmicity of 11oxC19 steroids in saliva profiles and evaluate their relevance as potential monitoring parameters in 21OHD. Design, Setting, and Participants Cross-sectional single-center study including 59 patients with classic 21OHD (men = 30; women = 29) and 49 body mass index- and age-matched controls (men = 19; women = 30). Outcome Measures Salivary concentrations of the following steroids were analyzed by liquid chromatography-tandem mass spectrometry: 17-hydroxyprogesterone (17OHP), androstenedione (A4), testosterone (T), 11β-hydroxyandrostenedione (11OHA4), and 11-ketotestosterone (11KT). Results Similar to the previously described rhythmicity of 17OHP, 11OHA4 and 11KT concentrations followed a distinct diurnal rhythm in both patients and controls with highest concentrations in the early morning and declining throughout the day (11-OHA4: mean reduction of hormone concentrations between timepoint 1 and 5 (Δ mean) in male patients = 66%; male controls Δ mean = 83%; female patients Δ mean = 47%; female controls Δ mean = 86%; 11KT: male patients Δ mean = 57%; male controls Δ mean = 63%; female patients Δ mean = 50%; female controls Δ mean = 76%). Significant correlations between the area under the curve for 17OHP and 11KT (rpmale = 0.773<0.0001; rpfemale = 0.737<0.0001), and 11OHA4 (rpmale = 0.6330.0002; rpfemale = 0.5640.0014) were observed in patients but not present or reduced in controls. Conclusions Adrenal 11oxC19 androgens are secreted following a diurnal pattern. This should be considered when evaluating their utility for monitoring treatment control.

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) requires lifelong glucocorticoid replacement to manage cortisol deficiency and excessive androgen production. Conventional circadian treatment (CT) tries to mimic natural cortisol rhythms, whereas reverse-circadian treatment (RC) prioritizes the suppression of adrenal androgen excess overnight through evening dosing. Limited data exist on the immunological impact of these regimens. A bi-centric study was conducted, including 41 pediatric and adolescent CAH patients. Peripheral blood samples were collected from patients on conventional treatment (n = 38) or RC (n = 16), with 11 RC patients switching to conventional treatment. Immune cell phenotypes, cytokine profiles, and natural killer (NK) cell cytotoxicity were assessed. Patients receiving RC showed lower percentages of CD4+CD25+ T cells (p = 0.0139). After the switch, patients with RC presented with a higher percentage of non-classical monocytes (p = 0.0255) and a lower percentage of Th17 cells (p = 0.0195). A lower expression of CD107 was observed with RC (p < 0.0001), as well as a higher percentage of NKp30 (p = 0.0189). Comparing patients after the switch from RC to HC, patients with RC presented with a lower NKG2D expression (p = 0.0420). Both conventional treatment and RC exhibited distinct immunological impacts, with CT showing modest advantages in normalizing immune phenotypes. These findings suggest that CT may offer immunological benefits for managing young patients with congenital adrenal hyperplasia.

Disclosure: L. Tschaidse: None. S. Wimmer: None. M. Auer: None. C. Lottspeich: None. H.F. Nowotny: None. I. Dubinski: None. H. Schmidt: None. M. Quinkler: None. N. Reisch: None. Background: Due to impaired cortisol synthesis, patients with congenital adrenal hyperplasia (CAH) require lifelong glucocorticoid replacement therapy, including stress dose adjustment, to prevent life-threatening adrenal crises (AC). Previous studies indicate a high incidence of AC in patients with CAH but also inadequate stress dose adjustment. The aim of this study was to prospectively investigate the incidence of AC, the frequency and details of stress dose adjustment as well as knowledge of the disease in adult patients with CAH. Methods: A total of 162 adult CAH patients with CAH were enrolled in this prospective, multi-centre study. Data was collected using a patient diary with the following aspects being assessed: frequency, cause, duration and dosage of dose adjustments and the occurrence of AC. In case of AC, additional medical records were reviewed and patient interviews were conducted. Additionally, it was assessed if current sick day rules of the German Society of Endocrinology (DGE) were followed adequately. Knowledge of disease was assessed using the CAH Knowledge Assessment Questionnaire (CAHKAQ) in the German version. Results: We found an AC incidence of 8.4 per 100 patient years in 145 patients. 29 patients were subsequently excluded from further analysis due to habitual dose adjustments. Of 116 patients, 77.6% reported at least one dose adjustment with a total of195.4 dose adjustments per 100 patient years. There were no significant differences of median frequency in dose adjustments between male and female patients (2.0 (5.0) vs 3.0 (6.0), p = .829) or salt-wasting and simple-virilizing patients (2.0 (5.0) vs 3.5 (8.3), p =.111). The causes for dose adjustment were mental distress (23.8%), strenuous physical activity (14.6%), flu-like symptoms (12.7%), gastrointestinal symptoms (10.1%), medical procedures (9.1%), fever (8.6%), discomfort (6.8%), pain or trauma (6.3%), unspecific physical symptoms (5.5%) and other forms of infection (2.6%). According to the DGE recommendations, in 24.1% of cases, dose adjustment was unnecessary and in 33.9% of cases, the dosage of adjustment was incorrect. A total of 34.8% of dose adjustments were performed according to sick day rule recommendations of the DGE. There was a significant positive correlation of the frequency of dose adjustments and the incidence of AC (r =.24, p = .011) and CAHKAQ Score (r =.23, p = .014). Conclusion: Adult patients with CAH show a high incidence of AC and stress dose adjustments. Compared to the retrospective AC incidence in the same cohort, we found an even higher AC incidence in this prospective study. The majority of stress dose adjustments were not in accordance to the recommendations of the DGE. These findings suggest the need for structured and repeated education of patients and their caregivers to avoid unnecessary dose adjustments while preventing AC, with particular focus on the timing of transition. Presentation: Saturday, June 17, 2023

Introduction: The occurrence of ectopic prostate tissue in the female genital tract is rare and has only been described sporadically. The origin of these lesions is unclear, but their appearance seems to be associated with various forms of androgen excess, including androgen therapy for transgender treatment or disorders of sex development, such as classic congenital adrenal hyperplasia (CAH). This is the first described case of ectopic prostate tissue in the cervix uteri of a 46,XX patient with a confirmed diagnosis of non-classic CAH due to 21-OHD and a history of mild adrenal androgen excess. Case presentation: We describe a 34-year-old patient with a genetic diagnosis of non-classic CAH due to 21-hydroxylase deficiency (21-OHD) with a female karyo- and phenotype and a history of mild adrenal androgen excess. Due to dysplasia in the cervical smear, conization had to be performed, revealing ectopic prostate tissue in the cervix uteri of the patient. Conclusions: An association between androgen excess and the occurrence of prostate tissue is likely and should therefore be considered as a differential diagnosis for atypical tissue in the female genital tract.