Type A Insulin Resistance Syndrome- Novel insulin receptor gene mutation and familiar phenotypic variability
| Autor: | Rodolfo Rey, Kenny Y Del Toro Camargo, Ignacio Bergadá, Mariana Gutierrez, Mirta Gryngarten, Paula Scaglia, Andrea Arcari, Laura E. Valinotto, Analia Freire, Laura Suarez, María Gabriela Ballerini, Mónica I Natale, María Gabriela Ropelato |
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| Rok vydání: | 2019 |
| Předmět: |
endocrine system
medicine.medical_specialty Mutation biology business.industry Hyperandrogenism nutritional and metabolic diseases medicine.disease medicine.disease_cause Insulin receptor Endocrinology Internal medicine medicine biology.protein Hyperinsulinemia Missense mutation business Acanthosis nigricans Tyrosine kinase hormones hormone substitutes and hormone antagonists hirsutism |
| Zdroj: | International Journal of Clinical Endocrinology and Metabolism. 5:020-023 |
| ISSN: | 2640-7582 |
| DOI: | 10.17352/ijcem.000037 |
| Popis: | Type A Insulin Resistance Syndrome is due to heterozygous mutations in the insulin receptor (INSR) gene or its signaling pathway. We present a premenarcheal 14 year-old girl with normal BMI, severe hirsutism, acanthosis nigricans, clitoral hypertrophy, deep voice, enlarged polycystic ovaries, severe hyperinsulinemia and biochemical hyperandrogenism. We identified a novel heterozygous missense variant in the tyrosine kinase domain of INSR (p.Leu1150Pro) and an heterozygous missense variant in SH2B adapter protein 1 involved in the insulin pathway (p.Ala663Val). Interestingly, the patients’ mother and brother had the same INSR mutation although of a milder phenotype, reason why their IR went undiagnosed. |
| Databáze: | OpenAIRE |
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