Wissenschaftliches aus dem PEZZ

Unsere wissenschaftlichen Publikationen gliedern wir in:

Publications in reviewed journals

Abnormalities of the Eyelashes in Turner’s, The Journal of Pediatric Genetics, Dr. med Ilja Dubinski

Lean Body Mass in Boys With Prader-Willi Syndrome Increases Normally During Spontaneous and Induced Puberty,- Kees Noordam, Anika Stephan, Urs Eiholzer; The Journal of Clinical Endocrinology & Metabolism, 6. März 2023 https://doi.org/10.1210/clinem/dgad101

Growth, Endocrine Features, and Growth Hormone Treatment in Noonan SyndromJovanna Dahlgren and Cees Noordam,   Journals  JCM  Volume 11  Issue 7  10.3390/jcm11072034  2022

The increase in child obesity in Switzerland is mainly due to migration from Southern Europe – a cross-sectional study  Urs Eiholzer, Chris Fritz and Anika Stephan, BMC Public Health 2021

Gonadal Hormone Substitution in People with Prader-Labhart-Willi Syndrome: An International Prader-Willi Syndrome Organisation Survey, Hormone Research in Paediatrics,Urs Eiholzer et al; DOI: 10.1159/000518342, 2021

Prader–Willi Syndrome and Hypogonadism: A Review Article, Urs Eiholzer et al; International Journal of Molecular Sciences 2021

Das Noonan-Syndrom ist nicht selten. Wie erkennt man es? Wie betreut man Betroffene? Fachzeitschrift für Kinderärzte  2021

Le syndrome de Noonan n’est pas rare. Comment le reconnaître? Comment prendre en charge les patients?  Revue professionnelle de Prof. Dr. Dr. med. Kees Noordam  2021

Donze, Stephany H., Reply to Commentary on ‘Prevalence of growth hormone (GH) deficiency in previously GH treated young adults with Prader‐ Willi syndrome’  2019

Contemporary height, weight and body mass index references for children aged 0 to adulthood in Switzerland compared to the Prader reference, WHO and neighbouring countries. Urs Eiholzer et al, Annals of Human Biology, 2019

Strength Training and Physical Acitivity in Boys: a Randomized Trial; PEDIATRICS, DOI: 10.1542/peds. 2013-1343;  Center for Pediatric Endocrinology Zurich, Switzerland.

The efficacy and safety of long-term Norditropin® treatment in children with Prader-Willi syndrome. Horm Metab Res. 2013 Jul;45(7):532-6. doi: 10.1055/s-0033-1343449. Epub 2013 Apr 30. Center for Pediatric Endocrinology Zurich, Switzerland.

High-Intensity Training Increases Spontaneous Physical Activity in Children: A Randomized Controlled Study. Eiholzer U, Gutzwiller F, Gasser T.;  J Pediatr. 2010 Feb; 156(2): 242-6. Epub 2009 Oct 20

Eiholzer U, Meinhardt U, Gallo C, Schlumpf M, Rousson V, l'Allemand D. Association between foot growth and musculoskeletal loading in children with Prader-Willi syndrome before and during growth hormone treatment. J Pediatr. 2009 Feb;154(2):225-9. Epub 2008 Sep 25.

Eiholzer U, Meinhardt U, Rousson V, Petrò R, Schlumpf M, Fusch G, Fusch C, Gasser T, Gutzwiller F. Association between short sleeping hours and physical activity in boys playing ice hockey. J Pediatr. 2008 Nov;153(5):640-5, 645.e1. Epub 2008 Jun 27.

Eiholzer U, Meinhardt U, Rousson V, Petrovic N, Schlumpf M, l'Allemand D. Developmental profiles in young children with Prader-Labhart-Willi syndrome: effects of weight and therapy with growth hormone or coenzyme Q10. Am J Med Genet A. 2008 Apr 1;146(7):873-80.

Pfaeffle RW, Hunter CS, Savage JJ, Duran-Prado M, Mullen RD, Neeb ZP, Eiholzer U, Hesse V, Haddad NG, Stobbe HM, Blum WF, Weigel JF, Rhodes SJ. Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies. J Clin Endocrinol Metab. 2008 Mar;93(3):1062-71. Epub 2007 Dec 11.

Eiholzer U, Grieser J, Schlumpf M, l’Allemand D. Clinical effects of treatment for hypogonadism in male adolescents with Prader-Labhart-Willi syndrome (PWS). Horm Res 2007;68(4):178-184.

Eiholzer U, l'Allemand D, Rousson V, Schlumpf M, Gasser T, Girard J, Grüters A, Simoni M. Hypothalamic and Gonadal Components of Hypogonadism in Boys with Prader-Labhart-Willi Syndrome. J Clin Endocrinol Metab 2006;91:892-898.

Schlumpf M, Eiholzer U, Gygax M, Schmid S, van der Sluis I, l’Allemand D. A daily comprehensive muscle training program increases lean mass and spontaneous activity in children with Prader-Willi syndrome after 6 months. Journal of Pediatric Endocrinology and Metabolism 2006;19:65-74.

Eiholzer U. Deaths in children with Prader-Willi syndrome. A contribution to the debate about safety of growth hormone treatment in children with PWS. Hormone Research 2005;63:33-39.

Eiholzer U, l'Allemand D, Schlumpf M, Rousson V, Fusch C. Body composition in children with Prader-Willi syndrome younger than two years and the effect of 30-month growth hormone therapy. J Pediatr 2004;144:753-8.

Steinhausen HC, Eiholzer U, Hauffa BP, Malin Z. Behavioural and emotional disturbances in people with Prader-Willi syndrome. J Intellect Disab Res 2004;48:47-52.

L'Allemand D, Eiholzer U, Schlumpf M, Torresani T, Girard J. Carbohydrate metabolism is not impaired after 3 years of growth hormone therapy in children with Prader-Willi syndrome. Hormone Research, 2003;59:239-248.

Eiholzer U, Nordmann Y, l'Allemand D, Schlumpf M, Schmid S, Kromeyer-Hauschild K. Improving body composition and physical activity in Prader-Willi Syndrome. Journal of Pediatrics 2003; 142:73-78.

Eiholzer U, Nordmann Y, l'Allemand D. Fatal Outcome of Sleep Apnoea in PWS during the Initial Phase of Growth Hormone Treatment. A case report. Horm Res. 2002;58 Suppl 3:24-26. (Original data)

L'Allemand D, Eiholzer U, Rousson V, Girard J, Blum W, Torresani T et al. Increased adrenal androgen levels in patients with Prader-Willi syndrome are associated with insulin, IGF-I, and leptin, but not with meas-ures of obesity. Horm Res. 2002;58:215-22.

Steinhausen HC, Von Gontard A, Spohr HL, Hauffa BP, Eiholzer U, Backes M et al. Behavioral phenotypes in four mental retardation syndromes: Fetal alcohol syndrome, Prader-Willi syndrome, fragile X syndrome, and tuberosis sclerosis. Am J Med Genet. 2002;111:381-87.

Nordmann Y, Eiholzer U, l'Allemand D, Mirjanic S, Markwalder C. Sudden death of an infant with Prader-Willi syndrome - not a unique case? Biol Neonate. 2002;82:139-41.

Grieser J. Vater, Mutter, Kind und Therapeut. Die therapeutische Funktion des Dritten in der Behandlung depressiver Zustände. Forum der Psychoanalyse 2001;17:64-83

Eiholzer U, L'Allemand D. Growth hormone normalises height, prediction of final height and hand length in children with Prader-Willi syndrome after four years of therapy. Horm Res 2000;53:185-192.

L'Allemand D, Eiholzer U, Schlumpf M, Steinert H, Riesen W. Cardiovascular risk factors improve under 3 years of growth hormone therapy in Prader-Willi syndrome. Eur J Pediatr 2000;159:835-842

Eiholzer U, L'Allemand D, van der Sluis I, Steinert H, Ellis K: Body composition abnormalities in children with Prader-Willi syndrome and longterm effects of growth hormone therapy. Horm Res 2000;53:200-206.

Pannain S, Feldman M, Eiholzer U, Weiss RE, Scherberg NH, and Refetoff S. Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine. J Clin Endocrinol Metab 2000;85:2786-2792.

Gromoll J, Eiholzer U, Nieschlag E, Simoni M. Male hypogonadism caused by homozygous deletion of exon 10 of the luteinizing hormone (LH) receptor: Differential action of human chorionic gonadotropin and LH. J Clin Endocrinol Metab 2000;85:2281-2286.

Haverkamp F, Eiholzer U, Ranke MB, Noeker M. Symptomatic versus Substitution Growth Hormone Therapy in small children: From auxology towards a comprehensive multidimensional assessment of short stature and related interventions. J Pediatr Endocrinol Metab 2000;13:403-408.

Malich S, Largo RH, Schinzel A, Molinari L, Eiholzer U. Phenotypic Heterogeneity of Growth and Psychometric Intelligence in Prader-Willi Syndrome: Variable Expression of a Contiguous Gene Syndrome or Parent-Child Resemblance? Am J Med Genet 2000;91:298-304.

Eiholzer U, Malich S, l'Allemand D. Does growth hormone therapy improve motor development in infants with Prader-Willi-syndrome? Eur J Pediatr 2000;159:299. Research letter (original data).

Eiholzer U, Blum WF, Molinari L. Body fat determined by skinfold meas-urements is elevated despite underweight in infants with Prader-Labhart-Willi syndrome. J Pediatr 1999;134(2):222-225.

Eiholzer U, Stutz K, Weinmann C, Torresani T, Molinari L, Prader, A. Low insulin, IGF-I and IGFBP-3 Levels in Children with Prader-Labhart-Willi Syndrome. Eur J Pediatr 1998;157:890-893.

Eiholzer U, Gisin R, Weinmann C, Kriemler S, Steinert H, Torresani T, Zachmann M, and Prader A. Treatment with human growth hormone in patients with Prader-Labhart-Willi syndrome reduces body fat and in-crases muscle mass and physical performance. Eur J Pediatr 1998;157:368-377.

Eiholzer U, Bodmer P, Bühler M, Döhmann U, Meyer G, Reinhard P, Schimert G, Varga G, Wälli R, Largo R, Molinari L. Longitudinal monthly body measurements from 1 to 12 months of age. A study by practitio-ners for practitioners. Eur J Pediatr 1998;157:547-552.

Schinzel A, Lorda-Sanchez I, Binkert F, Carter NP, Bebb CE, Ferguson-Smith MA, Eiholzer U, Zachmann M, Robinson WP. Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting. J Med Genet 1995;32:957-961.

Werder EA, Torresani T, Navratil F, Arbenz U, Eiholzer U, Pelet B, Burri M, Schwarzenbach P, and Hunziker U. Pericardial effusion as a sign of acquired hypothyroidism in children with Down syndrome. Eur J Pediatr 1993;152:397-398.

Eiholzer U, Boltshauser E, Frey D, Molinari L, and Zachmann M. Short Stature: A Common Feature in Duchenne Muscular Dystrophy. Eur J Pediatr 1998;147:602.

Eiholzer U, Zachmann M, Gnehm HE, and Prader A. Recovery from Posttraumatic Anterior Pituitary Insufficiency. Eur J Pediatr 1986;145:128-130.

Zachmann M, Manella B, Eiholzer U, Bucher H, and Prader A. Influence of Oestrogen in High and Low Doses on Plasma Steroid Concentrations in Girls with Tall Stature and Turner Syndrome. Acta endocrinol 1984;106:368-373.

Publications in non-reviewed journals and book chapters

Das Noonan-Syndrom ist nicht selten. Wie erkennt man es? Wie betreut man Betroffene? Fachzeitschrift für Kinderärzte  2021

Le syndrome de Noonan n’est pas rare. Comment le reconnaître? Comment prendre en charge les patients?  Revue professionnelle de Prof. Dr. Dr. med. Kees Noordam  2021

Das Asthmakind und sein Cortison, 01.11.2013 Kinderärzte Schweiz

«Es geht um jeden Zentimeter», Ars Medici Oktober 2011

Neue Wachstumskurven: Für Schweizer Kinder nicht repräsentativ – eine Replik. Urs Eiholzer, Paediatrica Okt 2011

Neue Wachstumskurven: für Schweizer Kinder nicht repräsentativ. Urs Eiholzer, Schweizerische Ärztezeitung Sept 2011

Die neuen Wachstumskurven sind für die Schweizer Kinder wahrscheinlich nicht repräsentativ. Urs Eiholzer, Forum News Sommer 2011

Eiholzer U., Katschnig C., Prader-Willi-Syndrome, Encyclopedia of Endocrine Diseases, 2nd Edition, 2018

Eiholzer, U., Grieser, J.: Zum Umgang mit dem jugendlichen Patienten und seinen Eltern am Beispiel einer Diabetikerin. Praxis-Arena, 10, 1, S. 5-11, 2007

Grieser J., Eiholzer U. Zum Umgang mit dem jugendlichen Patienten und seinen Eltern in der kinderärztlichen Praxis. Paediatrica 2005;16:32-39

Grieser J., Eiholzer U. Der Arzt und sein jugendlicher Patient. Swiss Medical Forum 2005;5:630-638

Grieser, J.; Eiholzer, U.: Psychosoziale Einfühlung und Begleitung. In: Stier, B.; Weissenrieder, N. (Hrsg.): Jugendmedizin – Gesundheit und Gesellschaft, Kap. 14, S. 120-124. Heidelberg (Springer), 2005

Grieser, J.; Eiholzer, U.: Der „kranke“ Jugendliche. In: Stier, B.; Weissenrieder, N. (Hrsg.): Jugendmedizin – Gesundheit und Gesellschaft, Kap. 15, S. 125-131. Heidelberg (Springer), 2005

Eiholzer U., Whitman B. A comprehensive team approach to the management of patients with Prader-Willi syndrome. J Pediatr Endocrinol Metab 2004;17:1153-1175

Eiholzer U. Prader-Willi syndrome. In: Martini L (editor in chief): Encyclopedia of Endocrine Diseases, Academic press, 2004

Eiholzer U. Prader-Labhart-Willi Syndrome. Growth Hormone Therapy in Children and Adults. nordiscience 2004:75-82

Eiholzer U. A comprehensive approach to limit weight gain and to normalize body composition in Prader-Willi syndrome. In: Eiholzer U, l'Allemand D, Zipf WB (eds): Prader-Willi syndrome as a model for obesity, Karger Verlag, 2003

Eiholzer U. Treatment strategies to normalize growth, weight and body composition in Prader-Willi syndrome. Current Medical Literature 2003;18(1):1-9

Eiholzer U., Gellatly M., Lee PDK, Ritzén M., Whitman B. A Comprehensive Team Approach to the Management of Prader-Willi Syndrome. IPWSO

Eiholzer U., Schlumpf M., Nordmann Y., l'Allemand D. Early manifestations of Prader-Willi syndrome: influence of growth hormone. J Pediatr Endocrinol Metab. 2001;14 Suppl 6:1441-44

Eiholzer U., Bachmann S., l'Allemand D. Is there a growth hormone deficiency in PWS? Six arguments to support the presence of a hypothalamic GHD in PWS. Horm Res 2000;53:185-192

Eiholzer U.; Steinhausen HC; Hauffa BP   Behavioural and emotional disturbances in people with Prader–Willi Syndrome

Eiholzer U., Bachmann S., l'Allemand D. Prader-Labhart-Willi Syndrom and Growth Hormone (invited leading article) Current Medical Literature 2000; 15: 31-35

Eiholzer U., Bachmann S., l'Allemand D. GH treatment as part of comprehensive therapy design for children with PWS (invited leading article) International Growth Monitor 2000;10:3-8

Eiholzer U., Bachmann S., l'Allemand D. Growth hormone deficiency in PWS: a review. The Endocrinologist (USA) 2000;10:50S-56S

Eiholzer U., Weber R, Stutz K, Steinert H. Effect of 6 months of growth hormone treatment in young children with Prader-Willi syndrome. Acta Paediatr 1997;23(Suppl. 4):66-8

Eiholzer U. Betreuung am Übergang von der Kindheit zum Erwachsenenalter aus der Sicht des Kinderarztes. Der kinderarzt 1997; 28:1212-1217

Pfäffle RW, Kim C, Otten B, Wit JM, Eiholzer U, Heimann G, Parks J. Pit-1: Clinical Aspects. Horm Res 1996;45(Suppl. 1):25-28

Eiholzer U. über die Notwendigkeit einer speziellen Jugendmedizin. Schweiz. Ärztezeitung 1991;72:95-100

Zachmann M., Eiholzer U., Muritano M., Werder E. A., Manella B. Treatment of pubertal gynaecomastia with testolactone. Acta endocrinol Suppl 1986;279:218-226