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

Autor: 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.
Jazyk: angličtina
Zdroj: Clinical endocrinology [Clin Endocrinol (Oxf)] 2022 Sep; Vol. 97 (3), pp. 284-292. Date of Electronic Publication: 2022 Mar 21.
DOI: 10.1111/cen.14715
Abstrakt: 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.)
Databáze: MEDLINE
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