Diagnostic Approach in Children with Short Stature

Oostdijk, Wilma; Grote, F K; Keizer‐Schrama, Sabine M.P.F. de Muinck; Wit, Jan M.

doi:10.1159/000236082

Cited by 109 publications

(96 citation statements)

References 90 publications

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“…There are some published guidelines for the evaluation of short stature [12,13,14,15]. Our study has shown that adherence to these guidelines in the primary clinics referring children to our unit is only partial.…”

Section: Discussionmentioning

confidence: 68%

“…The office evaluation of short stature made by the primary care physician represented in the referral letter was compared to acceptable short stature evaluation guidelines [12,13,14,15]. We noted whether the office evaluation included parental height, Tanner stage of puberty, previous growth data (or growth curves), and laboratory investigations including: complete blood count (CBC), erythrocyte sedimentation rate (ESR), serum electrolytes, concentration of blood urea nitrogen (BUN), creatinine, thyroid-stimulating hormone, free T 4 , IGF-1, celiac disease antibody panel, urinalysis, and bone age X-ray.…”

Section: Methodsmentioning

confidence: 99%

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Ethnic and Gender Inequities in the Evaluation of Referred Short Children

Yardeni

Loewenthal²,

Limony³

et al. 2011

Horm Res Paediatr

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Aims: To examine ethnicity and gender differences in the evaluation of referred children with short stature and to investigate adherence of the primary care evaluation to published guidelines. Methods: Cross-sectional study in a referral center. 371 short patients aged 2–18 years were included. Outcome measures were patient’s growth characteristics, final diagnosis, and prevalence of pre-referral patient data. Results: The study population was composed of 239 Bedouin children and 132 Jewish children (p < 0.0001). More males (61%) than females were evaluated (p < 0.0001). There were no significant differences between males and females in age and growth parameters at the time of referral. Bedouins, males and females, were significantly shorter than their Jewish counterparts at the time of referral: height SD –2.44 ± 0.73 and –2.62 ± 1.05 versus –2.13 ± 0.55 and –2.21 ± 0.57, respectively (p < 0.05). There were no significant ethnic or gender differences in the final diagnosis. Significant deficiencies in the primary care evaluation of referred short children were found. Conclusions: We demonstrated novel ethnic- and gender-based inequities in the evaluation of referred short children. We found that the current evaluation of short stature in our area does not comply with existing guidelines.

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Section: Discussionmentioning

confidence: 68%

Section: Methodsmentioning

confidence: 99%

Ethnic and Gender Inequities in the Evaluation of Referred Short Children

Yardeni

Loewenthal²,

Limony³

et al. 2011

Horm Res Paediatr

View full text Add to dashboard Cite

show abstract

“…In approximately 80% of children who are referred to a pediatric clinic because of short stature, no definite cause can be established, even after a thorough diagnostic workup including extensive biochemical screening and radiologic investigations [1,2,3,4]. Such children are usually classified as idiopathic short stature (ISS) [1].…”

Section: Introductionmentioning

confidence: 99%

Genetic Analysis of Short Children with Apparent Growth Hormone Insensitivity

Wit

Duyvenvoorde²,

Scheltinga³

et al. 2012

Horm Res Paediatr

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Background/Aims: In short children, a low IGF-I and normal GH secretion may be associated with various monogenic causes, but their prevalence is unknown. We aimed at testing GH1, GHR, STAT5B, IGF1, and IGFALS in children with GH insensitivity. Subjects and Methods: Patients were divided into three groups: group 1 (height SDS <–2.5, IGF-I <–2 SDS, n = 9), group 2 (height SDS –2.5 to –1.9, IGF-I <–2 SDS, n = 6) and group 3 (height SDS <–1.9, IGF-I –2 to 0 SDS, n = 21). An IGF-I generation test was performed in 11 patients. Genomic DNA was used for direct sequencing, multiplex ligation-dependent probe amplification and whole-genome SNP array analysis. Results: Three patients in group 1 had two novel heterozygous STAT5B mutations, in two combined with novel IGFALS variants. In groups 2 and 3 the association between genetic variants and short stature was uncertain. The IGF-I generation test was not predictive for the growth response to GH treatment. Conclusion: In severely short children with IGF-I deficiency, genetic assessment is advised. Heterozygous STAT5B mutations, with or without heterozygous IGFALS defects, may be associated with GH insensitivity. In children with less severe short stature or IGF-I deficiency, functional variants are rare.

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“…The European Society for Paediatric Endocrinology classification distinguishes between primary and secondary growth disorders and idiopathic short stature (ISS). 3 Primary growth disorders include clinically-defined syndromes such as Turner's and Cornelia de Lange, children who are small for gestational age (SGA) with failure to catch up, and skeletal dysplasias. Secondary growth disorders include malnutrition, disorders in organ systems (e.g.…”

Section: Conditions Related To Short Staturementioning

confidence: 99%

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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Diagnostic Approach in Children with Short Stature

Cited by 109 publications

References 90 publications

Ethnic and Gender Inequities in the Evaluation of Referred Short Children

Ethnic and Gender Inequities in the Evaluation of Referred Short Children

Genetic Analysis of Short Children with Apparent Growth Hormone Insensitivity

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

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