Can Auxology, IGF-I and IGFBP-3 Measurements Followed by MRI and Genetic Tests Replace GH Stimulation Tests in the Diagnosis of GH Deficiency in Children?
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Yardena Tenenbaum-Rakover
ABSTRACT
Background/Aims: GH levels < 10 ng/ml in response to two different GH stimulation tests (GHSTs) are traditionally used to identify children with GH deficiency (GHD). Since GHSTs are imprecise, other diagnostic tools have been proposed. We assessed whether auxology, IGF-I and IGFBP-3 measurements followed by brain MRI and genetic analysis can replace the current diagnostic approach.
Methods: Fifty-three children diagnosed with GHD by two different GHSTs. GH-1 gene was sequenced.
Results: At presentation, 17% of patients were with height above -1.5 SD and 28% above -2.0 SD; 50% had IGF-1 concentration above -1.5 SD and 58% above -2.0 SD; 59% had pituitary anomalies demonstrated by MRI. Fourteen subjects harbored the heterozygous R183H mutation, one patient had the N47D mutation and one had a novel F25Y mutation in GH-1. Using cut-off levels of -1.5 SD for height, IGF-I and IGFBP-3 excluded the diagnosis of GHD in 17, 68 and 79% of the children, respectively; a cut-off of -2 SD excluded 28, 88 and 96%, respectively. Further brain MRI and genetic tests excluded 81-96% and 96-100%, respectively, of children currently diagnosed with GH.
Conclusion: Use of the tested approach, which avoids carrying out two GHSTs, would exclude most children currently diagnosed with GHD. Until better tools become available, we recommend identifying GHD in children by an integrated approach combining phenotype, auxological parameters, hormonal measurements and two separate GHSTs, with MRI and genetic tests to support the diagnosis.
© Freund Publishing House Ltd.
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Articles in the same Issue
- Growth hormone (GH) testing nutrition and metabolic balance, do we have the full picture?
- Primary Aldosteronism and its Impact on the Generation of Arterial Hypertension, Endothelial Injury and Oxidative Stress
- Metaphyseal Condrodysplasia, Schmid-type, a Differential Diagnosis with Rickets
- Adiposity, Physical Activity and Blood Lipid Profile in 13-year-old Adolescents
- Relationship between Metabolic Parameters and Thyroid Hormones and the Level of Gastric Peptides in Children with Autoimmune Thyroid Diseases
- Stimulated Growth Hormone Concentrations in Obese Pediatric Patients with Mild and Severe Insulin Resistance: A Pilot Study
- Amiodarone-induced Thyrotoxicosis in Children and Adolescents is a Possible Outcome in Patients with Low Iodine Intake
- Analysis of Serum Adiponectin, Resistin and Leptin Levels in Children and Adolescents with Autoimmune Thyroid Disorders
- Molecular Diagnosis of 46,XY DSD and Identification of a Novel 8 Nucleotide Deletion in Exon 1 of the SRD5A2 Gene
- Can Auxology, IGF-I and IGFBP-3 Measurements Followed by MRI and Genetic Tests Replace GH Stimulation Tests in the Diagnosis of GH Deficiency in Children?
- Body Fat Measurements in Elite Adolescent Volleyball Players: Correlation between Skinfold Thickness, Bioelectrical Impedance Analysis, Air-displacement Plethysmography, and Body Mass Index Percentiles
- Autonomic Bladder Dysfunction in an Adolescent with Type 1 Diabetes
- Autoimune Thyroiditis and Diabetes Mellitus Type 1 after Long-term Gonadotropin-releasing Hormone Agonist Treatment for Central Precocious Puberty: Evolution or Coincidence?
- Novel Growth Hormone Receptor Gene Mutation in a Patient with Laron Syndrome
- A Novel Missense Mutation in the AVPR2 Gene of a Japanese Infant with Nephrogenic Diabetes Insipidus
- Early Presentation of Familial Paraganglioma with SDHB Mutation in a 13 year old Child and its Mother
