Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
Endocr Pract. 2012 Jan-Feb;18(1):85-9. doi: 10.4158/EP11364.RA.
To discuss the factors to consider when evaluating patients with a suspected genetic endocrine disorder, so as to guide practicing endocrinologists through the process of genetic testing and result interpretation.
The author's experience and review of appropriate literature have been used to give a personal perspective on the role of genetic testing in hereditary endocrine disorders.
Recent advances in our understanding of genetics and genomics have uncovered that they have a far more important role in the pathogenesis of endocrine disease than previously appreciated. Not only are we expanding our understanding of rare mendelian disorders such as multiple endocrine neoplasia type 1 and 2, but we are also beginning to understand the clinical significance of genetic factors in the pathogenesis of common disorders such as obesity and dyslipidemia.
It can be difficult to appreciate the clinical significance and utility of genetic testing that is currently available, and the interpretation of genetic test results can be challenging. Decisions on whether genetic testing is needed should be made on a case-by-case basis, with the endocrinologist and geneticist working together from the outset.
讨论评估疑似遗传性内分泌疾病患者时需要考虑的因素，以指导内分泌临床医生进行基因检测和结果解读。
作者结合个人经验和相关文献，探讨了基因检测在遗传性内分泌疾病中的作用。
目前，我们对遗传学和基因组学的认识有了进一步的深入，发现其在内分泌疾病的发病机制中比之前认为的更为重要。我们不仅加深了对多发性内分泌肿瘤 1 型和 2 型等罕见孟德尔疾病的认识，还开始了解遗传因素在肥胖和血脂异常等常见疾病发病机制中的临床意义。
目前可获得的基因检测的临床意义和实用性可能难以理解，且基因检测结果的解读也颇具挑战。是否需要进行基因检测应根据具体情况而定，内分泌医生和遗传学家应从一开始就共同协作。
