TY  - JOUR
AB  - Background: Childhood obesity has become a global pandemic and is one of the strongest risk factors for cardiovascular disease later in life. The correlation of epigenetic marks with obesity and related traits is being elucidated. This review summarizes the latest research and its challenges in the study of epigenetics of (childhood) obesity. Summary: Epigenome-wide association studies helped identify novel targets and methylation sites that are important in the pathophysiology of obesity. In the future, such sites will become essential for developing methylation risk scores (MRS) for metabolic and cardiovascular diseases. Although MRS are very promising for predicting the individual risk of obesity, the implementation of MRS is challenging and has not been introduced into clinical practice so far. Key Messages: Future research will undoubtedly discover numerous methylation sites that may be involved in the development of obesity and its comorbidities, especially at a young age. This will contribute to a better understanding of the complex etiology of human obesity. From a clinical perspective, the overarching aim was to generate MRS that is robust for reliable and accurate prediction of obesity and its comorbidities.
AU  - Keller, M.
AU  - Vogel, M.*
AU  - Garten, A.*
AU  - Svensson, S.I.A.*
AU  - Rossi, E.*
AU  - Kovacs, P.*
AU  - Böttcher, Y.*
AU  - Kiess, W.*
C1  - 73528
C2  - 57084
CY  - Allschwilerstrasse 10, Ch-4009 Basel, Switzerland
TI  - Epigenetics of childhood obesity.
JO  - Horm. Res. Paediatr.
PB  - Karger
PY  - 2025
SN  - 1663-2818
ER  - 

TY  - JOUR
AB  - The International Society for Pediatric and Adolescent Diabetes (ISPAD) guidelines represent a rich repository that serves as the only comprehensive set of clinical recommendations for children, adolescents, and young adults living with diabetes worldwide. This guideline serves as an update to the 2022 ISPAD consensus guideline on staging for type 1 diabetes (T1D). Key additions include an evidence-based summary of recommendations for screening for risk of T1D and monitoring those with early-stage T1D. In addition, a review of clinical trials designed to delay progression to Stage 3 T1D and efforts seeking to preserve beta-cell function in those with Stage 3 T1D are included. Lastly, opportunities and challenges associated with the recent US Food and Drug Administration (FDA) approval of teplizumab as an immunotherapy to delay progression are discussed.
AU  - Haller, M.J.*
AU  - Bell, K.J.*
AU  - Besser, R.E.J.*
AU  - Casteels, K.*
AU  - Couper, J.J.*
AU  - Craig, M.E.*
AU  - Larsson, H.E.*
AU  - Jacobsen, L.*
AU  - Lange, K.*
AU  - Oron, T.*
AU  - Sims, E.K.*
AU  - Speake, C.*
AU  - Tosur, M.*
AU  - Ulivi, F.*
AU  - Ziegler, A.-G.
AU  - Wherrett, D.K.*
AU  - Marcovecchio, M.L.*
C1  - 73331
C2  - 56834
CY  - Allschwilerstrasse 10, Ch-4009 Basel, Switzerland
TI  - ISPAD clinical practice consensus guidelines 2024: Screening, staging, and strategies to preserve beta-cell function in children and adolescents with Type 1 
      Diabetes.
JO  - Horm. Res. Paediatr.
PB  - Karger
PY  - 2024
SN  - 1663-2818
ER  - 

TY  - JOUR
AB  - Background: Obesity in childhood and adolescence remains a great global health challenge. Stress exposure during childhood and adolescence is associated with a higher risk for obesity, yet the linkage between stress and obesity is multidimensional, and its biological and behavioral mechanisms are still not fully understood. Summary: In this literature review, we identified different types of stress exposure in children and adolescents, including first studied effects of the COVID-19 pandemic as a prolonged stress exposure and their association with obesity risk. We investigated studies on the connection of altered stress biology and behavioral pathways as well as intervention programs on stress reduction in children and adolescents with obesity. Key Messages: There is evidence that stress exposure in childhood and adolescence promotes biological and behavioral alterations that contribute to the multifactorial pathogenesis of obesity. COVID-19 related-stress presents the most current example of a negative influence on weight development in children and adolescents. However, longitudinal studies on the linkage between environmental, behavioral, and biological factors across development are few, and results are partly equivocal. Intervention programs to reduce stress in children through mindfulness might be a promising adjunctive tool in the prevention and treatment of childhood and adolescent obesity that could further offer proof of concept of theoretically elaborated cause-and-effect relationships.
AU  - Kappes, C.*
AU  - Stein, R.
AU  - Körner, A.*
AU  - Merkenschlager, A.*
AU  - Kiess, W.*
C1  - 64387
C2  - 51847
CY  - Allschwilerstrasse 10, Ch-4009 Basel, Switzerland
SP  - 88-96
TI  - Stress, stress reduction and obesity in childhood and adolescence.
JO  - Horm. Res. Paediatr.
VL  - 96
IS  - 1
PB  - Karger
PY  - 2021
SN  - 1663-2818
ER  - 

TY  - JOUR
AU  - Lennerz, B.*
AU  - Moss, A.*
AU  - Brand, S.*
AU  - Bickenbach, A.*
AU  - Bollow, E.*
AU  - Geisler, A.*
AU  - Holl, R.W.*
AU  - Holle, R.
AU  - Kiess, W.*
AU  - Brintrup, D.L.*
AU  - Muehlig, Y.*
AU  - Neef, M.*
AU  - Ose, C.*
AU  - Reinehr, T.*
AU  - Scherag, A.*
AU  - Teuner, C.M.
AU  - Wiegand, S.*
AU  - Wolters, B.*
AU  - von Schnurbein, J.*
AU  - Hebebrand, J.*
AU  - Wabitsch, M.*
C1  - 52210
C2  - 43834
CY  - Basel
SP  - 161-161
TI  - Medical and psychosocial implications of adoelscent extreme obesity- acceptance and effects of structured care program - Yes Study. A consortium of the BMBF.
JO  - Horm. Res. Paediatr.
VL  - 88
PB  - Karger
PY  - 2017
SN  - 1663-2818
ER  - 

TY  - JOUR
AU  - Flieger, S.*
AU  - Neuhaus, N.*
AU  - Strom, T.M.
AU  - Henrichs, I.*
AU  - Joehren, O.*
AU  - Gromoll, J.*
AU  - Hiort, O.*
AU  - Werner, R.*
C1  - 50237
C2  - 42139
CY  - Basel
SP  - 268-268
TI  - Functional studies of a new mutation in the LH/CG receptor gene identified in 2 sisters with 46,XY DSD.
JO  - Horm. Res. Paediatr.
VL  - 86
PB  - Karger
PY  - 2016
SN  - 1663-2818
ER  - 

TY  - JOUR
AB  - Introduction: Cerebral edema (CE) is a rare and dangerous complication of diabetic ketoacidosis. In typical cases, it may develop during several hours after the beginning of ketoacidosis therapy. Nevertheless, CE sometimes occurs before the start of any therapy - as for the patient in this report here. Case Report: We describe a 12-year-old girl with newly diagnosed type 1 diabetes, presenting with severe headache and disorientation. Diabetes-related symptoms were not reported by the family. Clinical investigation revealed signs of meningeal irritation and Kussmaul breathing. In the laboratory, severe ketoacidosis (pH 6.95) and hyperglycemia (blood glucose 20.9 mmmol/l) were found. Cranial computed tomography showed CE. The patient was treated with a very cautious fluid and insulin therapy and recovered within 3 days. MRI after recovery showed normal findings without residuals of CE. Conclusion: CE before any treatment of ketoacidosis is a very rare complication of type 1 diabetes. Early diagnosis and effective treatment are extremely important for the patient's outcome and prognosis.
AU  - Warncke, K.*
AU  - Dressel, P.*
AU  - Ziegler, A.-G.
AU  - Steinborn, M.*
AU  - Bonfig, W.*
AU  - Burdach, S.*
AU  - Engelsberger, I.*
C1  - 30906
C2  - 35922
CY  - Basel
SP  - 285-288
TI  - Severe pretreatment cerebral edema in newly diagnosed type 1 diabetes.
JO  - Horm. Res. Paediatr.
VL  - 81
IS  - 4
PB  - Karger
PY  - 2014
SN  - 1663-2818
ER  - 

TY  - JOUR
AB  - Background: Leptin deficiency is associated with severe obesity and metabolic disturbances. Increased liver fat content has been reported in only one case beforehand, even though hepatic steatosis is a typical comorbidity of common obesity. It is also frequent in patients with lipodystrophy where it resolves under leptin therapy. Subject and Methods: In 2010, we reported a leptin-deficient patient with a novel homozygous mutation in the leptin gene and severe hepatic steatosis. We have now studied serum changes and changes in liver fat content during the substitution with recombinant methionyl human leptin. Results: After 23 weeks of leptin substitution, elevated transaminases, total cholesterol and low-density lipoprotein levels normalized. After 62 weeks, homeostasis model assessment of insulin resistance improved from 10.7 to 6.0 and body fat mass dropped from 50.2 to 37.8%. Liver fat content was drastically reduced from 49.7 to 9.4%. The first changes in liver fat content were detectable after 3 days of therapy. Conclusion: Our patient showed a remarkable reduction of liver fat content during the treatment with recombinant methionyl human leptin. These changes occurred rapidly after initiation of the substitution, which implies that leptin has a direct effect on hepatic lipid metabolism in humans as it is seen in rodents.
AU  - von Schnurbein, J.*
AU  - Heni, M.*
AU  - Moss, A.*
AU  - Nagel, S.A.*
AU  - Machann, J.
AU  - Muehleder, H.*
AU  - Debatin, K.M.*
AU  - Farooqi, S.*
AU  - Wabitsch, M.*
C1  - 27806
C2  - 32817
SP  - 310-317
TI  - Rapid improvement of hepatic steatosis after initiation of leptin substitution in a leptin-deficient girl.
JO  - Horm. Res. Paediatr.
VL  - 79
IS  - 5
PB  - Karger
PY  - 2013
SN  - 1663-2818
ER  - 

TY  - JOUR
AB  - BACKGROUND/AIMS: Genome-wide association studies revealed associations of single nucleotide polymorphisms (SNPs) flanking MC4R with body mass index variability and obesity. We genotyped 28 SNPs, covering MC4R, and searched for haplotypes discriminating between obese mutation carriers and non-carriers. METHODS: We analyzed all three-marker haplotype combinations of the 28 SNPs to discriminate between obese mutation carriers and non-carriers - overall and in functional categories for 25 different MC4R mutations: (a) 'like wild type', (b) 'partial loss of function', and (c) 'complete loss of function'. We checked for the possible impact of 'cryptic relatedness' by sensitivity analyses including only 1 randomly selected patient per mutation. RESULTS: Overall analyses revealed a haplotype of 3 SNPs downstream of the MC4R discriminating between obese mutation carriers and obese non-carriers. However, sensitivity analyses showed that the finding is most likely due to cryptic relatedness. CONCLUSION: Given a mutation prevalence of 1-5%, the sample size of 62 obese mutation carriers with overall 25 different MC4R mutations represents a unique feature of our study. Taking MC4R as an example, we demonstrate the impact of cryptic relatedness when trying to link non-coding SNPs to functionally relevant mutations. Hence, a thorough mutation screen can currently not be guided by SNP genotyping.
AU  - Mühlhaus, J.*
AU  - Pütter, C.*
AU  - Brumm, H.*
AU  - Grallert, H.
AU  - Illig, T.
AU  - Scherag, S.*
AU  - Reinehr, T.*
AU  - Pott, W.*
AU  - Albayrak, Ö.*
AU  - Wang, H.J.*
AU  - Bau, A.-M.*
AU  - Wiegand, S.*
AU  - Grüters, A.*
AU  - Krude, H.*
AU  - Hebebrand, J.*
AU  - Hinney, A.*
AU  - Biebermann, H.*
AU  - Scherag, A.*
C1  - 10584
C2  - 30300
SP  - 358-368
TI  - Do common variants separate between obese melanocortin-4 receptor gene mutation carriers and non-carriers? The impact of cryptic relatedness.
JO  - Horm. Res. Paediatr.
VL  - 77
IS  - 6
PB  - Karger
PY  - 2012
SN  - 1663-2818
ER  -