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    Aromatase Deficiency, a Rare Syndrome: Case Report
    (Turkish Pediatric Endocrinology & Diabetes Society, 2013) Baykan, Emine Kartal; Erdogan, Mehmet; Ozen, Samim; Darcan, Sukran; Saygili, L. Fusun
    Aromatase deficiency (AD) is a rare autosomal recessive inheritance syndrome. Its worldwide incidence is unknown, and there are few case reports in the literature. Aromatase dysfunction develops due to CYP19A1 gene mutation and a decrease in estrogen synthesis. Estrogen deficiency can induce delayed epiphyseal closure, eunuchoid body habitus, osteopenia, and osteoporosis in both genders. Our patient was a 27-year-old male who presented with bone pain, recurrent bone fractures associated with minimal trauma starting in puberty, and a progressive increase in height. Laboratory tests revealed that the blood levels of follicle-stimulating hormone and luteinizing hormone were above normal, testosterone level was normal, and estrogen was undetectable. Plain bone radiography of the left wrist and hand demonstrated that the epiphyses were still unfused. Lumbar osteoporosis was detected in bone densitometry. In the genetic analysis, homozygous R375H guanine-adenine (G-A) mutation was detected in the CYP19A1 gene, and a diagnosis of AD was reached. Treatment with 25 mu g transdermal estradiol was started. All family members were examined. Homozygous R375H G-A mutation was detected in the patient's younger brother. Heterozygous R375H G-A mutation was found in his mother, father, and older brother. In conclusion, this AD patient requires lifetime estrogen replacement in order to provide sufficient bone mineralization, to reduce the risk of bone fractures, and to lead a healthy life. The best method to prevent the possible complications is to diagnose the AD syndrome at early ages and to provide adequate estrogen replacement starting at puberty.
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    Aromatase Deficiency, a Rare Syndrome: Case Report
    (Turkish Pediatric Endocrinology & Diabetes Society, 2013) Baykan, Emine Kartal; Erdogan, Mehmet; Ozen, Samim; Darcan, Sukran; Saygili, L. Fusun
    Aromatase deficiency (AD) is a rare autosomal recessive inheritance syndrome. Its worldwide incidence is unknown, and there are few case reports in the literature. Aromatase dysfunction develops due to CYP19A1 gene mutation and a decrease in estrogen synthesis. Estrogen deficiency can induce delayed epiphyseal closure, eunuchoid body habitus, osteopenia, and osteoporosis in both genders. Our patient was a 27-year-old male who presented with bone pain, recurrent bone fractures associated with minimal trauma starting in puberty, and a progressive increase in height. Laboratory tests revealed that the blood levels of follicle-stimulating hormone and luteinizing hormone were above normal, testosterone level was normal, and estrogen was undetectable. Plain bone radiography of the left wrist and hand demonstrated that the epiphyses were still unfused. Lumbar osteoporosis was detected in bone densitometry. In the genetic analysis, homozygous R375H guanine-adenine (G-A) mutation was detected in the CYP19A1 gene, and a diagnosis of AD was reached. Treatment with 25 mu g transdermal estradiol was started. All family members were examined. Homozygous R375H G-A mutation was detected in the patient's younger brother. Heterozygous R375H G-A mutation was found in his mother, father, and older brother. In conclusion, this AD patient requires lifetime estrogen replacement in order to provide sufficient bone mineralization, to reduce the risk of bone fractures, and to lead a healthy life. The best method to prevent the possible complications is to diagnose the AD syndrome at early ages and to provide adequate estrogen replacement starting at puberty.
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    Characteristics and Treatment Results of 5 Patients with Fibrous Dysplasia and Review of the Literature
    (Hindawi Publishing Corp, 2015) Kutbay, Nilufer Ozdemir; Yurekli, Banu Sarer; Baykan, Emine Kartal; Sahin, Serap Baydur; Saygili, Fusun
    Aim. Fibrous dysplasia is a rare bone disease caused by missense mutation leading to abnormal fibroblast and osteoblast proliferation and increased bone resorption. FD can present in monostotic or polyostotic forms. About 3% of FD could be in association with McCune-Albright syndrome (MAS). Because FD is a rare disease, there is limited data in the literature about characteristics of disease and response to treatment. Methods. We present our five cases of FD with general properties and their responses to medical treatment. Results. Two of our patients had polyostotic and three had monostotic FD. One of the polyostotic patients had MAS. One of our patients had surgery for femur fractures, facial asymmetry, and findings of compression. Four patients were given pamidronate; one was given zoledronic acid as bisphosphonate treatment. Bone pain was relieved in all patients with medical treatment. Conclusion. There was a decrease in bone turnover markers to some degree with medical treatment but no radiological improvement was observed.
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    Coexistence of Primary Hyperparathyroidism and Differentiated Thyroid Carcinoma: Is It a Coincidence?
    (Aves, 2022) Baykan, Emine Kartal; Baykan, Ahmed Ramiz; Sakarya, Mehmet Hamdi; Bilici, Ahmet Erkan; Kurt, Ali; Erdogan, Mehmet
    Objective: Coexistence of primary hyperparathyroidism and differentiated thyroid carcinoma has been reported from time to time. However, the clinical features and risk factors of this association are unclear. In this study, we aimed to evaluate the relationship between primary hyperparathyroidism and differentiated thyroid carcinoma. Methods: The files of patients who were diagnosed with parathyroid adenoma and underwent parathyroid surgery in the endocrinology outpatient clinic between January 2015 and June 2021 were reviewed retrospectively. The clinical signs, biochemical abnormalities, and histological features of the patients were analyzed. Results: This study included 255 patients who were operated on with the diagnosis of parathyroid adenoma. When the ultrasonography reports of the patients were evaluated, thyroid nodules were detected in 100/255 (39.2%) patients. When the postoperative histology of the patients was evaluated, differentiated thyroid carcinoma was detected in 35/255 (13.7%) patients. Parathormone and calcium levels were found to be significantly lower in patients with differentiated thyroid carcinoma compared to patients with benign thyroid nodules (P <.05). In logistic regression analysis, there was a significant correlation between the presence of differentiated thyroid carcinoma and low serum calcium level (odds ratio: 0.031; 95% CI: 0.001-0.654; P =.035). In the receiver operating characteristic curve analysis, we found that serum calcium level <11.05 mg/dL in patients with parathyroid adenoma has good capacity to differentiate differentiated thyroid carcinoma from benign thyroid nodule (area under the curve: 0.648, P =.032, 71.4% sensitivity, and 72.7% specificity). Conclusion: We can say that the incidence of thyroid nodules increases in parathyroid adenoma compared to the general population and the probability of differentiated thyroid carcinoma increases as the calcium level decreases in these nodules.
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    Osteoprotegerin Levels in Acromegaly
    (Endocrine Soc, 2014) Kocabas, Gokcen; Simsir, Ilgin; Yurekli, Banu Pinar; Kutbay, Nilufer; Baykan, Emine Kartal; Altun, Ilker; Aksit, Murat; Bozkaya, Giray; Saygili, Fusun