IGF-I, IGFBP-3 and ALS generation test in Turner syndrome

Queiroz, Andrea N.P; Collett‐Solberg, Paulo Ferrez; Cardoso, Monique Esteves; Jusan, Rafaela Cattan; Guimarães, Marília M.

doi:10.1016/j.ghir.2007.03.003

Cited by 4 publications

(5 citation statements)

References 45 publications

(51 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In the present case, normal GH secretion was also found. The normal increase in IGF1 during an IGF1 generation test, previously unreported in short patients with SHOX duplications, indicates normal GH sensitivity [Pessoa de Queiroz et al, 2007;Bertelloni et al, 2013].…”

Section: Discussionmentioning

confidence: 67%

See 1 more Smart Citation

Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature

et al. 2016

View full text Add to dashboard Cite

Short stature homeobox gene (SHOX) mutations and pseudoautosomal region 1 (PAR1) deletions encompassing SHOX are known causes of Léri-Weill dyschondrosteosis and isolated short stature, while 3 copies of SHOX in cases with triple sex chromosome constitution are responsible for tall stature. Duplications involving SHOX have been rarely reported, and they were found in individuals with short, normal and tall stature. An adopted boy with short stature, isodicentric Y chromosome and 3 copies of SHOX is described. Normal growth hormone (GH) secretion and insulin-like growth factor 1 (IGF1) increase during an IGF1 generation test were found, ruling out impaired GH-IGF1 axis. No other organic or psychiatric causes of impaired growth were found. GH treatment improved linear growth, as reported in children with SHOX haploinsufficiency. This new report and the review of literature support that SHOX duplication may cause short stature, especially in those children with duplications of the 5′SHOX regulatory elements. Chromosome analysis and detailed molecular characterization of the duplicated region should be warranted in individuals with SHOX duplications in order to investigate the presence of occult chromosome imbalance. Additional reports and follow-up till adult height are needed to give conclusions on long-term efficacy and safety of GH treatment in short children with SHOX duplication.

show abstract

Section: Discussionmentioning

confidence: 67%

“…IGF1 values were in the normal range, but below the mean for age and sex (114.0 ng/ml; -0.62 SD). A normal increase was found after a IGF1 generation test (peak IGF1 value 331.2 ng/ml; Δ-increase + 190%, n.v. >15%) [Pessoa de Queiroz et al, 2007]. No psychiatric causes of impaired growth were found.…”

Section: Clinical Reportmentioning

confidence: 93%

Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature

et al. 2016

View full text Add to dashboard Cite

show abstract

“…Turner syndrome In a study of girls with Turner syndrome, baseline serum IGF1 and IGFBP3 values were normal and not different from their sibling controls (23). Following an IGFGT (administration of rhGH at 50 mg/kg per day for 4 days), the IGF1 response was positive (O15 ng/ml) in ten of 11 girls with Turner syndrome compared with all 11 controls.…”

Section: Reproducibility and Other Caveats About The Igfgtmentioning

confidence: 92%

“…The rationale for the use of IGFGT in patients with short stature, in particular in those with apparent idiopathic short stature (ISS), is to determine whether reduced GH sensitivity is an explanation for the phenotype (10,12,13). Investigators have also used the IGFGT to assess whether GHI contributes to short stature associated with various medical conditions, such as b-thalassaemia (14,15,16,17), HIV infection in children (18), juvenile idiopathic arthritis (19), osteogenesis imperfecta (20), immunodeficiency (21) and Turner syndrome (22,23).…”

Section: Introductionmentioning

confidence: 99%

DIAGNOSIS OF ENDOCRINE DISEASE: Limitations of the IGF1 generation test in children with short stature

Coutant

Dörr

Gleeson

et al. 2012

European Journal of Endocrinology

View full text Add to dashboard Cite

The IGF1 generation test (IGFGT) is often used during the assessment of suspected GH insensitivity (GHI). We report the results of a survey undertaken in 2010 to determine the use of IGFGT amongst members of the European Society for Paediatric Endocrinology to evaluate suspected GHI. The literature surrounding the usefulness and limitations of IGFGT are reviewed, and recommendations provided for its use. Of 112 paediatric endocrinologists from 30 countries who responded to the survey, 91 (81%) reported that they had used the IGFGT in the previous 2 years; O10 IGFGT protocols were used. The IGFGT impacted treatment decisions for 97% of the respondents and was a prerequisite for recombinant human IGF1 treatment for 45% of respondents. From a literature review, sensitivity of the IGFGT was evaluated as 77-91% in molecularly proven cases of GHI; specificity was %97%, depending on the protocol. The positive predictive value of the IGFGT is likely to be low, as the frequency of normality is predictably higher than that of abnormality in GH signalling. Given the limitations of the IGFGT in the most severe cases of GHI syndrome (GHIS), the ability of the IGFGT to detect less severe GHIS is doubtful. In a pragmatic approach, the IGFGT may not be useful for the diagnosis of GHIS.

show abstract

“…The main endocrine problems are short stature, ovarian failure, immune diseases and disturbances of the lipid glucose and bone metabolism (1). generation tests (5,6). All of them show normal values.…”

Section: Introductionmentioning

confidence: 99%

Endocrine diseases, perspectives and care in Turner syndrome

Collett‐Solberg

Gallicchio

Coelho

et al. 2011

Arq Bras Endocrinol Metab

View full text Add to dashboard Cite

SUMMARYTurner syndrome is a frequent chromosome disorder in clinical practice. It is characterized by short stature, gonadal dysgenesia and multisystemic involvement, responsible for a high morbidity and reduced life expectancy. The aim of the present paper is to describe the endocrinopathies and major problems at different ages, and to present suggestion for follow-up care in these patients. Arq Bras Endocrinol Metab. 2011;55(8):550-8

show abstract

IGF-I, IGFBP-3 and ALS generation test in Turner syndrome

Cited by 4 publications

References 45 publications

Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature

Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature

DIAGNOSIS OF ENDOCRINE DISEASE: Limitations of the IGF1 generation test in children with short stature

Endocrine diseases, perspectives and care in Turner syndrome

Contact Info

Product

Resources

About