دورية أكاديمية
أعرض في EDS

Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment.

التفاصيل البيبلوغرافية
العنوان: Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment.
المؤلفون: Lokulo-Sodipe O; Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK.; Department of Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Giabicani E; INSERM, UMR_S 938-Centre de Recherche Saint Antoine,  APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Sorbonne Université, Paris, France., Canton APM; INSERM, UMR_S 938-Centre de Recherche Saint Antoine,  APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Sorbonne Université, Paris, France.; Division of Endocrinology & Metabolism, Development Endocrinology Unit, Laboratory of Hormones and Molecular Genetics/LIM42, Clinical Hospital, Sao Paulo Medical School, University of Sao Paulo, Sao Paulo, Brazil., Ferrand N; Pediatric Endocrinology, University Children's Hospital, Tübingen, Germany., Child J; Child Growth Foundation, Sutton Coldfield, UK., Wakeling EL; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Binder G; Pediatric Endocrinology, University Children's Hospital, Tübingen, Germany., Netchine I; INSERM, UMR_S 938-Centre de Recherche Saint Antoine,  APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Sorbonne Université, Paris, France., Mackay DJG; Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK.; Wessex Regional Genetics Laboratory, Salisbury Hospital NHS Foundation Trust, Salisbury, UK., Inskip HM; MRC Epidemiology Unit, Faculty of Medicine University of Southampton, Southampton, UK., Byrne CD; Cancer Sciences, Faculty of Medicine University of Southampton, Southampton, UK.; NIHR Southampton Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Temple IK; Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Davies JH; Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK.; Department of Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
المصدر: Clinical endocrinology [Clin Endocrinol (Oxf)] 2022 Sep; Vol. 97 (3), pp. 284-292. Date of Electronic Publication: 2022 Mar 21.
نوع المنشور: Journal Article; Observational Study; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0346653 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2265 (Electronic) Linking ISSN: 03000664 NLM ISO Abbreviation: Clin Endocrinol (Oxf) Subsets: MEDLINE
أسماء مطبوعة: Publication: <2003->: Oxford : Blackwell Publishing
Original Publication: Oxford, Blackwell Scientific Publications.
مواضيع طبية MeSH: Body Height* , Body Mass Index* , Human Growth Hormone*/therapeutic use , Silver-Russell Syndrome*/drug therapy, Adolescent ; Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Young Adult
مستخلص: Objective: Silver-Russell syndrome (SRS) causes short stature. Growth hormone (GH) treatment aims to increase adult height. However, data are limited on the long-term outcomes of GH in patients with molecularly confirmed SRS. This study evaluated height, body mass index (BMI) and GH treatment in molecularly confirmed SRS.
Design: An observational study with retrospective data collection.
Patients: Individuals with molecularly confirmed SRS aged ≥13 years.
Measurements: Data were collected on height, height gain (change in height standard deviation score [SDS] from childhood to final or near-final height), BMI and gain in BMI (from childhood to adulthood) and previous GH treatment.
Results: Seventy-one individuals (40 female) were included. The median age was 22.0 years (range 13.2-69.7). The molecular diagnoses: H19/IGF2:IG-DMR LOM in 80.3% (57/71); upd(7)mat in 16.9% (12/71) and IGF2 mutation in 2.8% (2/71). GH treatment occurred in 77.5% (55/71). Total height gain was greater in GH-treated individuals (median 1.53 SDS vs. 0.53 SDS, p = .007), who were shorter at treatment initiation (-3.46 SDS vs. -2.91 SDS, p = .04) but reached comparable heights to GH-untreated individuals (-2.22 SDS vs. -2.74 SDS, p = .7). In GH-treated individuals, BMI SDS was lower at the most recent assessment (median -1.10 vs. 1.66, p = .002) with lower BMI gain (2.01 vs. 3.58, p = .006) despite similar early BMI SDS to GH-untreated individuals (median -2.65 vs. -2.78, p = .3).
Conclusions: These results support the use of GH in SRS for increasing height SDS. GH treatment was associated with lower adult BMI which may reflect improved metabolic health even following discontinuation of therapy.
(© 2022 The Authors. Clinical Endocrinology published by John Wiley & Sons Ltd.)
References: J Clin Endocrinol Metab. 2017 Nov 1;102(11):4100-4108. (PMID: 28945864)
Arch Dis Child. 1995 Jul;73(1):17-24. (PMID: 7639543)
Horm Res Paediatr. 2010;74(3):212-7. (PMID: 20424422)
Nat Rev Endocrinol. 2017 Feb;13(2):105-124. (PMID: 27585961)
J Clin Endocrinol Metab. 2016 May;101(5):2105-12. (PMID: 27007691)
Eur J Clin Nutr. 1991 Jan;45(1):13-21. (PMID: 1855495)
Horm Res Paediatr. 2010;74(4):259-66. (PMID: 20431273)
J Clin Endocrinol Metab. 2007 Aug;92(8):3148-54. (PMID: 17504900)
Horm Res Paediatr. 2013;80(3):193-200. (PMID: 24051620)
Acta Paediatr Scand. 1991 Aug-Sep;80(8-9):756-62. (PMID: 1957592)
J Clin Endocrinol Metab. 2017 Mar 1;102(3):983-991. (PMID: 28001454)
Hum Genet. 2005 Mar;116(4):255-61. (PMID: 15635480)
J Med Genet. 2015 Jul;52(7):446-53. (PMID: 25951829)
Arch Dis Child. 2015 Apr;100(4):353-8. (PMID: 25700540)
Nature. 2019 Mar;567(7748):305-307. (PMID: 30894741)
Nat Genet. 2005 Sep;37(9):1003-7. (PMID: 16086014)
J Med Genet. 2020 Oct;57(10):683-691. (PMID: 32054688)
J Clin Endocrinol Metab. 2018 Jun 1;103(6):2225-2233. (PMID: 29546330)
Arch Dis Child. 1970 Dec;45(244):755-62. (PMID: 5491878)
J Clin Endocrinol Metab. 2012 Nov;97(11):4096-105. (PMID: 22904179)
J Pediatr. 2008 Mar;152(3):327-30. (PMID: 18280835)
Arch Dis Child. 2019 Jan;104(1):76-82. (PMID: 29954740)
Helv Paediatr Acta Suppl. 1989 Jun;52:1-125. (PMID: 2737921)
Horm Res. 1997;48(4):173-7. (PMID: 9378463)
J Clin Endocrinol Metab. 2016 May;101(5):2005-12. (PMID: 26964733)
Expert Rev Mol Diagn. 2012 Jun;12(5):459-71. (PMID: 22702363)
J Pediatr. 1969 Jun;74(6):901-10. (PMID: 5781799)
Clin Endocrinol (Oxf). 2022 Sep;97(3):284-292. (PMID: 35261046)
BMJ. 1994 Sep 24;309(6957):780. (PMID: 7950567)
Clin Endocrinol (Oxf). 2007 Oct;67(4):485-92. (PMID: 17561977)
Eur J Pediatr. 1996 Oct;155(10):851-7. (PMID: 8891553)
J Pediatr Gastroenterol Nutr. 2018 Feb;66(2):306-311. (PMID: 28806298)
Endocrinology. 1991 Sep;129(3):1167-74. (PMID: 1874163)
J Med Genet. 2008 Feb;45(2):106-13. (PMID: 18245390)
J Clin Endocrinol Metab. 2009 Feb;94(2):579-87. (PMID: 19017756)
Hum Mol Genet. 1995 Apr;4(4):583-7. (PMID: 7633407)
Hum Mutat. 2011 Feb;32(2):249-58. (PMID: 21280150)
J Clin Endocrinol Metab. 2011 Dec;96(12):3710-6. (PMID: 21917862)
معلومات مُعتمدة: MC_UU_12011/4 United Kingdom MRC_ Medical Research Council; PB-PG-1111-26003 United Kingdom DH_ Department of Health
فهرسة مساهمة: Keywords: Silver-Russell syndrome; body mass index; growth hormone; height; weight
المشرفين على المادة: 12629-01-5 (Human Growth Hormone)
تواريخ الأحداث: Date Created: 20220309 Date Completed: 20220803 Latest Revision: 20221015
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC9545243
DOI: 10.1111/cen.14715
PMID: 35261046
قاعدة البيانات: MEDLINE
الوصف
تدمد:1365-2265
DOI:10.1111/cen.14715