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    Adult langerhans cell histiocytosis: Differential diagnosis
    (Turkiye Klinikleri, 2007) Çil T.; Gökalp D.; Tuzcu A.; Işikdoğan A.; Bahçeci M.
    Langerhans cell histiocytosis is a group of idiopathic disorders characterized by the abnormal proliferation of specialized bone marrow-derived Langerhans cells. There are one to two cases per million population. Most reports are based only on anecdotal experience in adult patients. Surgical excision, radiotherapy and chemotherapy, either alone or in combination are the main treatment options. In this report, we present a rare case of Langerhans cell histiocytosis in a 32 years-old-woman who developed symptomatic diabetes insipidus and multiple bone and cranial metastases during the disease course. This paper discusses controversial treatment modalities. Copyright © 2007 by Türkiye Klinikleri.
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    Assessment of thyroid function in children aged 1-13 years with beta-thalassemia major
    (Brieflands, 2011) Pirinççioğlu A.G.; Deniz T.; Gökalp D.; Beyazit N.; Haspolat K.; Söker M.
    Objective: Hypothyroidism usually appears in the second decade of life and is thought to be associated with iron overload in patients with thalassemia major. This study aimed to evaluate thyroid dysfunctions in patients with beta-thalassemia major and to see if they appear in the earlier period of life. Methods: Thyroid function and iron load status were evaluated in 90 children with a mean age of 7.17±3.78 years with beta-thalassemia major by measuring serum free thyroxin (FT4), serum free triiodothyronine (FT3), total thyroxin (T3), serum total triiodothyronine (T4), thyroid-stimulating hormone (TSH) and ferritin levels from serum of patients admitted to the Pediatric Department, Faculty of Medicine University of Dicle between March 2005 and July 2009. A control group formed from an age-sex matched healthy children with a mean age of 6.98±3.66 years was also included. A standard thyrotropin releasing hormone test was applied to 3 patients who had high TSH levels and were classified as subclinical primer hypothyroidism. The study was designed according to the Declaration of Helsinki and informed consent was obtained from the parents of all participants. Findings: All thyroid parameters in patients were in the normal ranges compared with the controls except three of them which had high TSH levels. Serum ferritin level (2703±1649 ng/mL) in patients was significantly higher than in controls (81.5±15.5 ng/mL). Conclusion: The work implies that hypothyroidism could be even seen in the first decade of life in patients with beta-thalassemia major in spite of improved hematological cares. © 2011 by Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, All rights reserved.
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    A case with lipoid proteinosis intersected with diabetes mellitus
    (Turkiye Klinikleri, 2009) Gökalp D.; Tuzcu A.; Bahçeci M.; Yildirim M.; Akdeniz S.; Özekinci S.; Urakçi Z.
    Lipoid proteinosis (LP) is a rare disorder inherited as an autosomal recessive trait. LP is characterized by deposition of hyaline-like material in the skin, mucous membranes, and other tissues. LP has been mapped to chromosome 1q21, the locus for the extracellular matrix protein 1 (ECM1) gene. In this case report, we aimed to present a case with LP accompanied by diabetes mellitus, and to discuss the possible mechanisms of diabetes in LP. A 16-year-old girl presented to the endocrinology department with hyperglycemia. She reported a history of progressive hoarseness of her voice since she was two years old. Our patient meets the clinical and histopathological criteria for the diagnosis of LP. Her fasting glucose was 310 mg/dl. Plasma insulin and C-peptide levels were 5.1 uU/ml and 1.57 ng/ml,respectively. Hemoglobin A1c was 12.3%. HOMA-IR (Homeostasis Model Assessment-Insulin Resistance) ratio was 3.1 (normal range <3.7). Serum islet cell antibodies, anti-GAD antibodies and anti-insulin antibodies were negative. Diabetes mellitus was diagnosed and insulin treatment was initiated. In conclusion, possible mechanism of diabetes mellitus may be result of the diffuse deposition of amorphous material into the capillary vessels or in pancreas. The other possible mechanism responsible for the association of diabetes mellitus and insulin resistance in LP patients may be sharing a mutation at 1q21 locus. Future studies which aimed screening of insulin resistance and diabetes mellitus in LP patients may be helpful to explain this association.