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    Endocrine and metabolic disorders in adult patients with thalassemia major
    (2020) Yilmaz, Nusret; Tazegul, Gokhan; Avsar, Esin; Kupesiz, Alphan; Sari, Ramazan; Altunbas, Hasan Ali; Balci, Mustafa Kemal
    Aim: Iron overload in tissues, despite current chelation therapies, is a major cause of organ dysfunction and serious complications in thalassemia major. Similarly, iron accumulation in endocrine tissues pave the way for various endocrinopathies. Previous reports regarding prevalence of endocrinopathies in thalassemia major varies significantly based on study population. In this study, we aimed to investigate the metabolic and endocrine disorders among the transfusion-dependent adult thalassemia major patients.Materials and Methods: Data from transfusion-dependent adult thalassemia major patients with regular follow-up were retrospectively evaluated. Former records of the patients were examined to evaluate endocrine disorders, on the basis of laboratory test results. Results: A total of 76 patients with a median age of 28 years, composed of 39 (51.3%) female and 37 (48.7%) male patients were included. Out of the entire cohort, 36.8% (n=28) had hypogonadism, 30.3% (n=23) had thyroid dysfunction, 28.9% (n=22) had a glucose metabolism disorder and 7.9% (n=6) had hypoparathyroidism. Hypogonadism was encountered in 38.5% (n=15) of females and in 35.1% (n=13) of males. Only one patient from each gender had hypergonadotropic hypogonadism, possibly related to iron overload, while the rest had hypogonadotropic hypogonadism. A positive history of delayed puberty was noted in 30.8% (n=12) of females and 24.3% (n=9) of males. Of the patients, 30.3% (n=23) had one, 18.4% (n=14) had 2, 10.5% (n=8) had 3, and 1.3% (n=1) had 4 different endocrine dysfunctions. Accordingly, 61.5% of the patients had at least one endocrine dysfunction while only 39.5% (n=30) had no endocrine dysfunction at all. Conclusion: Survival time has been prolonged in patients with thalassemia major by virtue of effective transfusion and chelation therapies. As a consequence of prolonged survival, endocrine dysfunctions commonly strike adult thalassemia major patients, therefore, endocrine functions need to be evaluated at regular intervals during follow-up.
  • Küçük Resim Yok
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    Landscape of congenital adrenal hyperplasia cases in adult endocrinology clinics of Türkiye-a nation-wide multicentre study
    (Springer, 2024) Ertorer, Melek Eda; Anaforoglu, Inan; Yilmaz, Nusret; Akkus, Gamze; Turgut, Seda; Unluhizarci, Kursad; Selcukbiricik, Ozlem Soyluk
    Background and aimsCongenital adrenal hyperplasia (CAH) is a group of disorders that affect the production of steroids in the adrenal gland and are inherited in an autosomal recessive pattern. The clinical and biochemical manifestations of the disorder are diverse, ranging from varying degrees of anomalies of the external genitalia to life-threatening adrenal insufficiency. This multicenter study aimed to determine the demographics, biochemical, clinical, and genetic characteristics besides the current status of adult patients with CAH nationwide.MethodsThe medical records of 223 patients with all forms of CAH were evaluated in the study, which included 19 adult endocrinology clinics. A form inquiring about demographical, etiological, and genetic (where available) data of all forms of CAH patients was filled out and returned by the centers.ResultsAmong 223 cases 181 (81.16%) patients had 21-hydroxylase deficiency (21OHD), 27 (12.10%) had 11-beta-hydroxylase deficiency (110HD), 13 (5.82%) had 17-hydroxylase deficiency (17OHD) and 2 (0.89%) had 3-beta-hydroxysteroid-dehydrogenase deficiency. 21OHD was the most prevalent CAH form in our national series. There were 102 (56.4%) classical and 79 (43.6%) non-classical 210HD cases in our cohort. The age of the patients was 24.9 +/- 6.1 (minimum-maximum: 17-44) for classical CAH patients and 30.2 +/- 11.2 (minimum-maximum: 17-67). More patients in the nonclassical CAH group were married and had children. Reconstructive genital surgery was performed in 54 (78.3%) of classical CAH females and 42 (77.8%) of them had no children. Thirty-two (50.8%) NCAH cases had homogenous and 31 (49.2%) had heterogeneous CYP21A2 gene mutations. V281L pathological variation was the most prevalent mutation, it was detected in 35 (55.6%) of 21OHD NCAH patients.ConclusionOur findings are compatible with the current literature except for the higher frequency of 110HD and 17OHD, which may be attributed to unidentified genetic causes. A new classification for CAH cases rather than classical and non-classical may be helpful as the disease exhibits a large clinical and biochemical continuum. Affected cases should be informed of the possible complications they may face. The study concludes that a better understanding of the clinical characteristics of patients with CAH can improve the management of the disorder in daily practice.