Talasemi majorlu erişkin hastalarda geç endokrinolojik değerlendirmenin sonuçları: olgu serisi

Year 2024, Volume: 49 Issue: 3, 834 - 840, 30.09.2024

Emek Topuz , Dilek Tüzün , Nursel Yurttutan , Murat Şahin

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

Cited By: 1

Abstract

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.

Keywords

Talasemi majör, hipogonadizm, büyüme hormonu eksikliği

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

Abstract

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.

Keywords

Thalassemia Major, hypogonadism, growth hormone deficiency

Ethical Statement

Yazarları çıkar çatışması yoktur.

Supporting Institution

yok

Thanks

yok

References

• Weatherall DJ. Disorder of globin synthesis: the thalassemias. in Williams Hematology. 7th ed. (Eds MA Lichtman, E Beutler, TJ Kipps, U Seligsohn, K Kaushansky, JT Prchal):633-66. New York, McGraw-Hill, 2006.
• De Sanctis V, Soliman AT. ICET-A: An opportunity for improving thalassemia management. Journal of Blood Disorders. 2014;1:2.
• De Sanctis V, Elsedfy H, Soliman AT, Elhakim IZ, Soliman NA, Elalaily R et al. Endocrine profile of β-thalassemia major patients followed from childhood to advanced adulthood in a tertiary care center. Indian J Endocrinol Metab. 2016;20:451-9.
• Oğuz SH, Okay M,Fedai AB et al. Endocrine disorders in adult beta-thalassemia patients:Insights from a long-term follow-up. Endocrinol Res Pract. 2023;27:205-12.
• Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Dis. 2010;21:11
• Srisukh S, Ongphiphadhanakul B, Bunnag P. Hypogonadism in thalassemia major patients. J Clin Transl Endocrinol. 2016;16:42-5.
• Chatterjee R, Katz M, Cox TF, Porter JB. Prospective study of the hypothalamic pituitary axis in thalassaemic patients who developed secondary amenorrhoea. Clin Endocrinol (Oxf). 1993;39:287–96.
• Noetzli LJ, Panigrahy A, Mittelman SD, Hyderi A, Dongelyan A, Coates TD et al. Pituitary iron and volume predict hypogonadism in transfusional iron overload. Am J Hematol. 2012;87:167-71.
• Christoforidis A, Haritandi A, Perifanis V, Tsatra I, Athanassiou-Metaxa M, Dimitriadis AS. MRI for the determination of pituitary iron overload in children and young adults with beta-thalassaemia major. Eur J Radiol. 2007;62:138–42.
• Shalitin S, Carmi D, Weintrob N, Phillip M, Miskin H, Kornreich L et al. Serum ferritin level as a predictor of impaired growth and puberty in thalassemia major patients. Eur J Haematol. 2005;74:93–100.
• Borgna-Pignatti C, Rugolotto S, De Stefano P, Zhao H, Cappellini M, Del Vecchio G et al. Survival and complications in patients with thalassemia major treated with transfusion and desferoxamine. Haematologica. 2004;89:1187–93.
• Katz M, De Sanctis V, Vullo C, Wonke B, McGarrigle HH, Bagni B. Pharmacokinetics of sex steroids in patients with beta thalassaemia major J Clin Pathol. 1993;46:660-4.
• Caruso-Nicoletti M, Mancuse M, Spadaro G, Presti DL, Conversano M. Response to growth hormone treatment in thalassemic patients. (abstract) International Congress of Endocrinology, San Francisco, The Endocrine Society, Bethesda, USA, P3±43, 1996.
• Farmakis D, Porter J, Taher A, Domenica Cappellini M, Angastiniotis M, Eleftheriou A. 2021 Thalassaemia International Federation Guidelines for the management of transfusion-dependent thalassemia. Hemasphere. 2022;29:e732.
• Lewiński A, Smyczyńska J, Stawerska R, Hilczer M, Stasiak M, Bednarczuk T et al. National program of severe growth hormone deficiency treatment in adults and adolescents after completion of growth promoting therapy. Endokrynol Pol. 2018;69:468-524