Atipik Tiroid Fonksiyon Testleri: Tiroid Hormon Direnci

Klinik şüphenin kuvvetli olması durumunda tiroid fonksiyon testlerinin değerlendirilmesi ile hipertiroidi (tirotoksikoz) veya hipotiroidi tanısının konması hekimler açısından bir sıkıntı oluşturmamaktadır. Ancak tiroid fonksiyon testlerinde azımsanmayacak oranda atipik sonuçlara veya klinik bulgularla uyumsuz sonuçlara rastlamak mümkündür. Böyle durumlarda doğru tanıyı koyabilmek hasta için uygun yaklaşım ve gereksiz maliyet artışına yola açan tetkiklerin engellenmesi açısından oldukça önemlidir. Doğru tanı ve yaklaşım için bu hastalarda çok iyi bir klinik değerlendirme ile beraber, spesifik laboratuar çalışması gerekmektedir. Atipik hipertiroksinemi (TSH ile uyumsuz yüksek tiroid hormon düzeyleri) nadir rastlanan durumlar olarak tirotropin salgılayan hipofiz adenomu veya tiroid hormon direnci sendromlarında görülebilen bir atipik tiroid fonksiyon testi paternidir. Ancak bu durumda öncelikle daha sık rastlanan ötiroid durumların (L-tiroksin kullanan hastalarda kompliyans sorunu, akut psikiyatrik tablolarla birlikte ötiroid hasta sendromu, heparin gibi ilaçlar nedeniyle oluşan hipertiroksinemi, familyal disalbüminemik hipertiroksinemi ve transtiretin ile ilişkili hipertiroksinemi gibi proteine bağlanma ile ilgili hastalıklar) ve analitik hataların dışlanması gerekmektedir. Daha sonra tirotropin salgılayan adenomu ve tiroid hormon direnci sendromunun ayırıcı tanısı için gerekli ileri incelemelere gidilmelidir. Tiroid hormon direnci sendromları içinde en sık görüleni beta reseptör defektine bağlı olarak gelişen Refetoff Sendromudur. Hipertiroidi ve hipotiroidi bulgularını bir arada içeren sendrom otozomal dominant geçiş özelliği göstermektedir. Tanı konan hastalarda bu yüzden aile taraması yapılmalıdır. Tedavisinde ise çoğunlukla beta blokerler yeterli olmaktadır. Bunun dışında çok daha nadir görülen diğer tiroid hormon direnci sendromları; alfa reseptör defektine bağlı tiroid hormon direnci, tiroid hormon membran transport defekti ve deiyodinaz eksikliğine bağlı tiroid hormon metabolizması defekti sonucu oluşur. Bu nadir sendromlarda klinik tablolar, klasik beta reseptör defektine bağlı sendroma göre daha ağırdır ve tedavileri çoğunlukla destekleyici tedavi şeklindedir.

Atypical Thyroid Function Tests, Thyroid Hormone Resistance

The assessment of thyroid function tests for to the diagnose hyperthyroidism (thyrotoxicosis) or hypothyroidism does not constitute a nuisance when the clinical suspicion is strong. However, substantial proportion of discordant results with clinical findings or atypical results possible to come across in the thyroid function tests. In such cases, accurate diagnosis is very important for appropriate management to the patient, prevention of unnecessary tests and cost increases. For accurate diagnosis in these patients, a detailed clinical evaluation with specific laboratory studies are needed. Atypical hyperthyroxinemia (high thyroid hormone levels are incompatible with TSH) is an atypical thyroid function test pattern can be seen in the rare cases of thyrotropin releasing pituitary adenoma or thyroid hormone resistance syndrome. However, in this case, assay interferences and euthyroid situations such as thyroxin replacement therapy with poor-compliance, euthyroid sick syndrome including acute psychiatric disorders, hyperthyroxinemia due to drugs like heparin, disorders with protein binding abnormalities (familial dysalbuminemic hyperthyroxinemia, transthyretin related hyperthyroxinemia) which are seen more common, should be excluded primarily. Then should be consulted further examinations for the differential diagnosis of thyrotropin-secreting pituitary adenomas and thyroid hormone resistance syndrome. The Refetoff Syndrome is developing due to a defect in the beta-receptor and is most common in thyroid hormone resistance syndromes. It includes a combination of findings of hyperthyroidism and hypothyroidism and suggests an autosomal dominant inheritance feature. Therefore, family screening should be done in patients diagnosed. Mostly, beta blockers is sufficient in the treatment. Other rare syndromes of thyroid hormone resistance that occurs due to alpha-receptor defects, thyroid hormones membrane transport defect and thyroid hormone metabolism defect related with deficiency of deiodinases. The clinical pictures of this rare syndromes are more severe compared to classic syndrome and often the choice of treatment is only supportive therapy.

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