Approach to the Patient With Suspected Silver-Russell Syndrome.

Autor:	Kurup U; Centre for Endocrinology, William Harvey Research Institute (WHRI), Charterhouse Square, Barts and the London School of Medicine, London EC1M 6BQ, UK., Lim DBN; Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK., Palau H; Centre for Endocrinology, William Harvey Research Institute (WHRI), Charterhouse Square, Barts and the London School of Medicine, London EC1M 6BQ, UK., Maharaj AV; Centre for Endocrinology, William Harvey Research Institute (WHRI), Charterhouse Square, Barts and the London School of Medicine, London EC1M 6BQ, UK., Ishida M; Centre for Endocrinology, William Harvey Research Institute (WHRI), Charterhouse Square, Barts and the London School of Medicine, London EC1M 6BQ, UK., Davies JH; Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK.; Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK., Storr HL; Centre for Endocrinology, William Harvey Research Institute (WHRI), Charterhouse Square, Barts and the London School of Medicine, London EC1M 6BQ, UK.
Jazyk:	angličtina
Zdroj:	The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Sep 16; Vol. 109 (10), pp. e1889-e1901.
DOI:	10.1210/clinem/dgae423
Abstrakt:	Silver-Russell syndrome (SRS) is a clinical diagnosis requiring the fulfillment of ≥ 4/6 Netchine-Harbison Clinical Scoring System (NH-CSS) criteria. A score of ≥ 4/6 NH-CSS (or ≥ 3/6 with strong clinical suspicion) warrants (epi)genetic confirmation, identifiable in ∼60% patients. The approach to the investigation and diagnosis of SRS is detailed in the only international consensus guidance, published in 2016. In the intervening years, the clinical, biochemical, and (epi)genetic characteristics of SRS have rapidly expanded, largely attributable to advancing molecular genetic techniques and a greater awareness of related disorders. The most common etiologies of SRS remain loss of methylation of chromosome 11p15 (11p15LOM) and maternal uniparental disomy of chromosome 7 (upd(7)mat). Rarer causes of SRS include monogenic pathogenic variants in imprinted (CDKN1C and IGF2) and non-imprinted (PLAG1 and HMGA2) genes. Although the age-specific NH-CSS can identify more common molecular causes of SRS, its use in identifying monogenic causes is unclear. Preliminary data suggest that NH-CSS is poor at identifying many of these cases. Additionally, there has been increased recognition of conditions with phenotypes overlapping with SRS that may fulfill NH-CSS criteria but have distinct genetic etiologies and disease trajectories. This group of conditions is frequently overlooked and under-investigated, leading to no or delayed diagnosis. Like SRS, these conditions are multisystemic disorders requiring multidisciplinary care and tailored management strategies. Early identification is crucial to improve outcomes and reduce the major burden of the diagnostic odyssey for patients and families. This article aims to enable clinicians to identify key features of rarer causes of SRS and conditions with overlapping phenotypes, show a logical approach to the molecular investigation, and highlight the differences in clinical management strategies. (© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society.)
Databáze:	MEDLINE
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