IMPE2023 Poster Presentations GH and IGFs (14 abstracts)
Proposed criteria to guide the molecular study of the IGF-1 receptor gene (IGF1R)
Paula Plomer 1 , María Celeste Mattone 1,2 , Natalia Perez Garrido 1 , Pablo César Ramirez 1 , Roxana Marino 1 , Juan Manuel Lazzati 1 , Gabriela Guercio 1,2 , Marta Ciaccio 1 & María Isabel Di Palma 1
1Servicio de Endocrinología, Hospital de Pediatria Prof. Dr. J. P. Garrahan, Buenos Aires, Argentina. 2Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina
Background: The role of Insulin-Like Growth Factor 1 (IGF1) in pre- and postnatal growth and brain development is widely recognized. It binds and activates its transmembrane receptor encoded by the IGF1R gene (15q26.3). Defects of IGF1R produces IGF1 resistance, characterized by pre- and postnatal growth retardation, microcephaly, and normal/elevated IGF1 serum levels, with great phenotypic variability.
Aim: To evaluate the clinical and biochemical characteristics, and the "IGF1R clinical score"* in the selection of short statured patients for the molecular study of the IGF1R gene.
Materials and methods: Medical records of patients who underwent molecular study of the IGF1R gene were retrospectively reviewed. Clinical and biochemical characteristics were analyzed: weight and length at birth and height, head circumference and IGF1 serum levels at first presentation. The "IGF1R clinical score" as well as two modified scores proposed by our group were applied using stricter diagnostic criteria, including: SDS IGF1 > 0 (A) or > 1 (B) and two or more of the following criteria: SDS weight/height at birth < -2, SDS height < -2, and SDS head circumference < -2.
Results: 58 patients (22 F) who underwent molecular study of the IGF1Rgene were included. In 6 patients (10.3 %) a pathogenic variant according to ACMG criteria was found. Clinical characteristics were similar between affected and unaffected patients; IGF1 serum level was higher in affected patients (p 0.0367). The “IGF1R clinical score” and the modified score A were applicable to 100% of affected patients, with a specificity of 17% and 43%, respectively. The modified score B showed a sensitivity of 66% and a specificity of 79%.
Conclusion: The prevalence of variant detection in the IGF1R gene in our population is similar to that described in the literature. The use of the two modified scores proposed by our group better adjust with the diagnostic criteria usually used in clinical practice. Both improve specificity in the selection of patients for the molecular study of the IGF1R gene. It is necessary to expand the study population in order to evaluate the usefulness and replicability of these results.
*(doi 10.1210/jc.2018-02065)
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