Insights from the clinical phenotype of subjects with Laron syndrome in Ecuador
| العنوان: | Insights from the clinical phenotype of subjects with Laron syndrome in Ecuador |
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| المؤلفون: | Carolina Guevara, Cristina Palacios, Carlos Torres, Antonio W. D. Gavilanes, Camila Bautista, Gabriela Peña, Alexandra Guevara, Jaime Guevara-Aguirre |
| المساهمون: | RS: GROW - R4 - Reproductive and Perinatal Medicine, Kindergeneeskunde, RS: MHeNs - R3 - Neuroscience, MUMC+: MA Medische Staf Kindergeneeskunde (9) |
| المصدر: | Reviews in Endocrine & Metabolic Disorders, 22(1), 59-70. Springer |
| بيانات النشر: | Springer Science and Business Media LLC, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | SENSITIVITY CHECK INDEX, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, diabetes-cancer-insulin-igfi-ecuadorian laron syndrome, 030209 endocrinology & metabolism, GLUCOSE, growth-factor-i, resistance, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Insulin resistance, Internal medicine, Diabetes mellitus, medicine, Laron syndrome, igf-binding proteins, hormone receptor deficiency, INSULIN SENSITIVITY, business.industry, body-fat distribution, Incidence (epidemiology), Insulin, Cancer, ADULTS, medicine.disease, CANCER, Obesity, Cohort, business |
| الوصف: | The Ecuadorian cohort of subjects with LS has taught us valuable lessons since the late 80's. We have learned about migration of Sephardic Jews to our country, their isolation in remote hamlets and further inbreeding. These geographical, historical and social determinants induced dissemination of a growth hormone (GH) receptor mutation which widely occurred in those almost inaccessible villages. Consequently, the world's largest Laron syndrome (LS) cohort emerged in Loja and El Oro, two of the southern provinces of Ecuador. We have been fortunate to study these patients since 1987. New clinical features derived from GH insensitivity, their growth patterns as well as treatment with exogenous insulin-like growth factor I (IGF-I) have been reported. Novel biochemical characteristics in the field of GH insensitivity, IGFs, IGF binding proteins (BP) and their clinical correlates have also been described. In the last few years, studies on the morbidity and mortality of Ecuadorian LS adults surprisingly demonstrated that despite obesity, they had lower incidence of diabetes and cancer than their relatives. These events were linked to their metabolic phenotype of elevated but ineffective GH concentrations and low circulating IGF-I and IGFBP-3. It was also noted that absent GH counter-regulation induces a decrease in insulin resistance (IR), which results in low but highly efficient insulin levels which properly handle metabolic substrates. We propose that the combination of low IGF-I signaling, decreased IR, and efficient serum insulin concentrations are reasonable explanations for the diminished incidence of diabetes and cancer in these subjects. |
| تدمد: | 1573-2606 1389-9155 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b166baf7a46de345aaf414af521fd74eTest https://doi.org/10.1007/s11154-020-09602-4Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....b166baf7a46de345aaf414af521fd74e |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15732606 13899155 |
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