Talasemi majorlu erişkin hastalarda geç endokrinolojik değerlendirmenin sonuçları: olgu serisi

Yıl 2024, Cilt: 49 Sayı: 3, 834 - 840, 30.09.2024

Emek Topuz , Dilek Tüzün , Nursel Yurttutan , Murat Şahin

https://doi.org/10.17826/cumj.1405545

Öz

Talasemi, hemoglobinin yapısında bulunan globin zincirlerinin sentezinin azalması veya hiç sentezlenmemesi ile karakterize edilen bir grup kalıtsal hastalıktır. Transfüzyona bağlı talasemi (TDT), yaşam boyu transfüzyon gerektiren en şiddetli formdur. Yetişkin hastalarda, transfüzyonlar nedeniyle farklı organlarda aşırı demir birikimi nedeniyle kalp, karaciğer ve endokrin bezleriyle ilgili komplikasyonlar görülmektedir. Bu komplikasyonlardan özellikle endokrin komplikasyonlar erişkin hastalarda yaygındır. Hipogonadizm ise talasemi majör hastalarının %70-80'ini etkileyen en sık bildirilen endokrin komplikasyondur. Bu olgu serisinde, TDT tanısıyla takip edilen ve ilk olarak erişkin yaşta endokrinolojik değerlendirmeden geçen 37, 18 ve 27 yaşlarındaki üç kadın hastayı sunacağız. Hipogonadotropik hipogonadizm ve büyüme hormonu (GH) eksikliği tanısının, bu hastaların endokrinolojik değerlendirmesi erişkin yaşta yapıldığı için geç tanı konduğunu ve bunun sonuçlarını tartışmayı amaçladık. TDT hastalarının surveyi transfüzyon, oral demir şelasyon tedavilerinin kullanıma girmesi ve kemik iliği nakli gibi tedavi şekillerinin gelişmesi ile son on yılda çok iyileşmiştir.Bu hastalar erişkin döneme kadar yaşamaktadır.Bu nedenle hastalara pre-pubertal ve pubertal dönemde endokrinolojik değerlendirme yapılmalıdır. Endokrin komplikasyonların erken tanınması, erken tedaviye başlanması, geri dönüşümsüz sekelleri önlemek için önemlidir.

Anahtar Kelimeler

Talasemi majör, hipogonadizm, büyüme hormonu eksikliği

Outcomes of late endocrinologic evaluation in adult patients with thalassemia major: case series

Öz

AThalassemia is a group of inherited disorders characterized by the reduced or absent synthesis of the globin chains that make up hemoglobin. Transfusion-dependent thalassemia (TDT) is the most severe form, which requires lifelong transfusion. Complications related to the heart, liver and endocrine glands caused by the accumulation of excess iron in different organs due to transfusions are seen in adult patients. Of these complications, endocrine gland complications are widespread in adult patients. Hypogonadism is the most commonly reported endocrine complication, which affects 70-80% of thalassemia major patients. In this case series, we will present three female patients, aged 37, 18 and 27, who were followed up with the diagnosis of TDT and who underwent endocrinological evaluation in adulthood. We aim to emphasize that the diagnosis of hypogonadotropic hypogonadism and growth hormone (GH) deficiency was made late because the endocrinological evaluation of these patients was performed at an adult age, and we discussed the consequences of this. The survival of TDT patients has improved significantly in the last decade due to the introduction of transfusion, oral iron chelation therapies, and bone marrow transplantation, and these patients live into adulthood. Therefore, endocrinologic evaluation should be performed in pre-pubertal and pubertal periods. Early recognition of endocrine complications and early initiation of treatment are important to prevent irreversible sequelae.

Anahtar Kelimeler

Thalassemia Major, hypogonadism, growth hormone deficiency

Etik Beyan

Yazarları çıkar çatışması yoktur.

Destekleyen Kurum

yok

Teşekkür

yok

Kaynakça

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