Developing evidence-based guidelines for referral for short stature

Grote, F K; Dommelen, Paula van; Oostdijk, Wilma; Keizer‐Schrama, Sabine M.P.F. de Muinck; Verkerk, P.H.; Wit, Jan M.; Buuren, Stef van

doi:10.1136/adc.2007.120188

Cited by 87 publications

(111 citation statements)

References 28 publications

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“…Potentially useful criteria for a cost-effective selection of short girls for this expensive test may include a large distance between height SDS and target height SDS (e.g., O2 S.D.) (206), delayed puberty and any indication of physical stigmata. Deletions of the long arm of the Y chromosome, or X/XY mosaicisms in phenotypic females or males, are associated with short stature (207,208,209,210).…”

Section: Chromosomal Abnormalitiesmentioning

confidence: 99%

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

Wit

Oostdijk

Losekoot

et al. 2016

European Journal of Endocrinology

153

132

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The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Many novel causes of GH deficiency (GHD) as part of combined pituitary hormone deficiency have been uncovered. The most frequent genetic causes of isolated GHD are GH1 and GHRHR defects, but several novel causes have recently been found, such as GHSR, RNPC3, and IFT172 mutations. Besides well-defined causes of GH insensitivity (GHR, STAT5B, IGFALS, IGF1 defects), disorders of NFkB signalling, STAT3 and IGF2 have recently been discovered. Heterozygous IGF1R defects are a relatively frequent cause of prenatal and postnatal growth retardation. TRHA mutations cause a syndromic form of short stature with elevated T 3 /T 4 ratio. Disorders of signalling of various paracrine factors (FGFs, BMPs, WNTs, PTHrP/IHH, and CNP/NPR2) or genetic defects affecting cartilage extracellular matrix usually cause disproportionate short stature. Heterozygous NPR2 or SHOX defects may be found in w3% of short children, and also rasopathies (e.g., Noonan syndrome) can be found in children without clear syndromic appearance. Numerous other syndromes associated with short stature are caused by genetic defects in fundamental cellular processes, chromosomal abnormalities, CNVs, and imprinting disorders.

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Section: Chromosomal Abnormalitiesmentioning

confidence: 99%

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

Wit

Oostdijk

Losekoot

et al. 2016

European Journal of Endocrinology

153

132

View full text Add to dashboard Cite

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“…One study, published in three papers, 14,18,24 met the inclusion criteria for the systematic review of referral strategies. Data extraction for this study can be found in Appendix 4, and the results of the study are briefly discussed in Results of the systematic review of referral strategies.…”

Section: Resultsmentioning

confidence: 99%

“…14,18,24 Grote et al conducted a study in the Netherlands that aimed to establish evidence-based guidelines for growth monitoring on a population basis. The authors examined the performance of a number of auxological rules to determine sensitivity and specificity of referral for short stature.…”

Section: Results Of the Systematic Review Of Referral Strategiesmentioning

confidence: 99%

“…18 It was, therefore, anticipated that the availability of further research on strategies for referral would now offer an opportunity to develop the earlier model to address a more specific decision problem: from one that compares monitoring with no monitoring to one that compares at least two different screening rules and/or referral cut-offs. Accordingly, this assessment aimed to identify and synthesise studies that compare referral strategies and/or screening rules.…”

Section: Referral Criteriamentioning

confidence: 99%

“…The systematic review found only one such algorithm, Grote et al, which has been presented above. 18 The earlier systematic review did not identify any studies meeting this inclusion criterion, therefore only one algorithm was evaluated.…”

Section: Decision Model Overviewmentioning

confidence: 99%

See 2 more Smart Citations

Growth monitoring for short stature: update of a systematic review and economic model

Craig

Fayter²,

Stirk³

et al. 2011

Health Technol Assess

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An electronic version of this title, in Adobe Acrobat format, is available for downloading free of charge for personal use from the HTA website (www.hta.ac.uk). A fully searchable DVD is also available (see below).Printed copies of HTA journal series issues cost £20 each (post and packing free in the UK) to both public and private sector purchasers from our despatch agents.Non-UK purchasers will have to pay a small fee for post and packing. For European countries the cost is £2 per issue and for the rest of the world £3 per issue. How to order:-fax (with credit card details) -post (with credit card details or cheque) -phone during office hours (credit card only).Additionally the HTA website allows you to either print out your order or download a blank order form. Contact details are as follows:Synergie UK (HTA Department) Digital House, The Loddon Centre Wade Road Basingstoke Hants RG24 8QW Email: orders@hta.ac.uk Tel: 0845 812 4000 -ask for 'HTA Payment Services' (out-of-hours answer-phone service) Fax: 0845 812 4001 -put 'HTA Order' on the fax header Payment methods Paying by chequeIf you pay by cheque, the cheque must be in pounds sterling, made payable to University of Southampton and drawn on a bank with a UK address.Paying by credit card You can order using your credit card by phone, fax or post. SubscriptionsNHS libraries can subscribe free of charge. Public libraries can subscribe at a reduced cost of £100 for each volume (normally comprising 40-50 titles). The commercial subscription rate is £400 per volume (addresses within the UK) and £600 per volume (addresses outside the UK). Please see our website for details. Subscriptions can be purchased only for the current or forthcoming volume.How do I get a copy of HTA on DVD?Please use the form on the HTA website (www.hta.ac.uk/htacd/index.shtml). HTA on DVD is currently free of charge worldwide.The website also provides information about the HTA programme and lists the membership of the various committees. ii ii HTA NIHR Health Technology Assessment programmeThe Health Technology Assessment (HTA) programme, part of the National Institute for Health Research (NIHR), was set up in 1993. It produces high-quality research information on the effectiveness, costs and broader impact of health technologies for those who use, manage and provide care in the NHS. 'Health technologies' are broadly defined as all interventions used to promote health, prevent and treat disease, and improve rehabilitation and long-term care. The research findings from the HTA programme directly influence decision-making bodies such as the National Institute for Health and Clinical Excellence (NICE) and the National Screening Committee (NSC). HTA findings also help to improve the quality of clinical practice in the NHS indirectly in that they form a key component of the 'National Knowledge Service' . The HTA programme is needs led in that it fills gaps in the evidence needed by the NHS. There are three routes to the start of projects. First is the commissioned route. Suggestions for resea...

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Systematic Growth Monitoring for the Early Detection of Celiac Disease in Children

et al. 2015

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IMPORTANCE Growth-monitoring programs in children aim to achieve the early detection of disorders that affect growth. Celiac disease (CD) is underdiagnosed in the pediatric population in which the presenting features often include faltering linear growth, short stature, or poor weight gain. OBJECTIVES To develop new evidence-based cutoffs for screening for growth disorders and to evaluate the performance of these cutoffs among children with CD measured regularly in a nationwide growth screening program. DESIGN, SETTING, AND PARTICIPANTS A longitudinal retrospective study that included longitudinal growth data of healthy children (the reference population) from primary health care and children with CD (the cases) from primary health care and 3 university hospital outpatient clinics in Finland (

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Developing evidence-based guidelines for referral for short stature

Cited by 87 publications

References 28 publications

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

Growth monitoring for short stature: update of a systematic review and economic model

Systematic Growth Monitoring for the Early Detection of Celiac Disease in Children

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