Araştırma Çıktıları | Scopus

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Browsing by Publisher "Acta Endocrinologica Foundation"

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    An unusual case of acquired partial lipodystrophy presenting with acanthosis nigricans
    (Acta Endocrinologica Foundation, 2019) Kutbay N.I.; Yurekli B.S.; Yasar Z.; Akinci B.
    About 250 patients with acquired partial lipodystrophy (Barraquer-Simons) syndrome have been reported so far. It is characterized by the loss of adipose tissue from the face and upper extremities, and accumulated fat in the rest of the body. The disease usually starts in females during childhood or adolescence, and usually after a febrile illness. Fat loss often comes into view in months or years. We present a 23-year-old female patient with acquired partial lipodystrophy, which is rarely seen. © 2019, Acta Endocrinologica Foundation. All rights reserved.
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    Is there a relationship between parathyroid hormone and neutrophil lymphocyte ratio or platelet lymphocyte ratio?
    (Acta Endocrinologica Foundation, 2019) Toraman A.; Aras F.; Hekimsoy Z.; Kursat S.
    Context. Neutrophil lymphocyte ratio (NLR) and platelet lymphocyte ratio (PLR) are recent prognostic markers associated with inflammation in many diseases such as chronic kidney disease (CKD), malignancies, myocardial infarction. Objective. In this study, we investigated the relationship between NLR-PLR and parathyroid hormone (PTH) and vitamin D in patients with high PTH levels. Design. The patients with high PTH levels in Nephrology and Endocrinolgy Outpatient clinics were evaluated retrospectively. Subjects and methods. The medical records of the patients were examined and clinical data, including demographic details, clinical and laboratory findings, treatment and follow-up data were obtained. NLR and PLR were calculated. Serum creatinine, calcium, phosphorus, magnesium, lipid levels, calcium phosphorus product, PTH and vitamin D values were investigated. The relationship between NLR-PLR and laboratory parameters, GFR (MDRD-GFR), PTH and vitamin D were investigated. Results. 48 male and 253 female patients were enrolled in this study. The mean age was 57.57±13.28. NLR correlated negatively with albumin, hemoglobin, vitamin D, calcium and cholesterol and it positively correlated with creatinine and PTH. Multiple regression analysis showed that main determinants of NLR were PTH, albumin, LDLcholesterol, hemoglobin and gender. Conclusions. In this study NLR and PLR correlated negatively with hemoglobin and cholesterol. Positive correlation between NLR and creatinine could be explained by increased degrees of inflammation associated with more pronounced degrees of renal dysfunction. The impact of PTH on NLR was independent of GFR. In multiple regression model this suggests that PTH could be a pro-inflammatory parameter independent of the degree of renal dysfunction. © 2019, Acta Endocrinologica Foundation. All rights reserved.
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    Pseudopseudohypoparathyroidism as a cause of fahr syndrome: Hypoparathyroidism not the only one
    (Acta Endocrinologica Foundation, 2020) Ozisik H.; Yürekli B.S.; Tuncel R.; Ozdemir N.; Baklaci M.; Ekmekci O.; Saygili F.
    Introduction. Fahr’s syndrome is an infrequent disorder characterized by bilateral symmetrical calcification of basal ganglia and the cerebral cortex. It can be seen genetic, idiopathic, or secondary to endocrine diseases. This disease is related to different metabolic disorders particularly with diseases of the parathyroid gland. Case 1. A 63-year-old female patient applied to our clinic due to having hypoparathyroidism with bilateral basal ganglia calcification in head computed tomography(CT). She had subtotal thyroidectomy 25 years ago. In the neurological examination, mild symmetrical parkinsonism was determined. In laboratory examination Ca:8 mg/dL (8.610.2), P:5.1 mg/dL (2.3-4.5), PTH:9.53 pg/mL (15-65) were detected. Calcitriol 0.25 μ/day was added to her treatment. Her parkinsonism disappeared after the treatment. Case 2. A 49-year-old male patient was consulted when he was admitted to the department of neurology in our hospital. The physical examination demonstrated the characteristics of Albright’s hereditary osteodystrophy. The neurological examination shows bilateral symmetrical bradykinesia, dysphagia, and moderate dysarthria. In the laboratory examination PTH: 46.5 ng/L(15-65), Ca:8.6 mg/dL (8.6-10.2), P:2.7 mg/dL (2.3-4.5) were detected and were all within the normal ranges. Consequently, pseudopseudohypoparathyroidism was decided as a diagnosis. G protein alpha subunit mutation (Gsα) was not detected due to technical limitations. Conclusion. When a patient is diagnosed as Fahr’s syndrome, we should keep in mind parathyroid disorders. Fahr’s syndrome must be evaluated in patients showing intracranial calcification accompanied by parathyroid diseases. © 2020, Acta Endocrinologica Foundation. All rights reserved.
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    THYROID HORMONE RESISTANCE: A CASE REPORT
    (Acta Endocrinologica Foundation, 2021) Almacan B.; Ozdemir N.; Gürkan H.; Gul S.; Guldiken S.; Hekimsoy Z.
    Background. Thyroid hormone resistance (RTH) is defined as a decrease in response to thyroid hormones in the target tissue. Most patients present with nonspecific findings. In this article, we aimed to represent a 22-year-old female patient who presented with palpitation, fatigue, and heat intolerance. She was thought to have thyroid hormone resistance and her genetic examination revealed NM_001128177.1 (THRβ): c.1034G > A (p.Gly345Asp) pathogenic variation in the THRβ gene. Case report. A 22-year-old female patient presented with complaints of fatigue, heat intolerance and palpitations. She was taking Propranolol twice daily at admission. Her family history revealed hypothyroidism in her grandmother. Her physical examination results were as follows: height 160 cm, weight 65 kg, body mass index 25.4kg/m2, body temperature 36.5˚C, respiratory rate 18/min, heart rate 86 beats/min, blood pressure 120/80 mmHg. Her palms were sweaty. The heart sounds were normal, and no heart murmur was auscultated. The laboratory results were TSH: 5.31uU/mL, fT3: 6.83 pg/mL, and fT4: 2.43 ng/dL. THRβ gene mutation analysis was requested for our patient whose clinical history and laboratory results were compatible with thyroid hormone resistance. The pathogenic variation NM_001128177.1(THRβ):c.1034G>A (p.Gly345Asp) was detected after analysis. Conclusion. A diagnosis of RTH requires high clinical suspicion and a genetic mutation analysis should be requested in the case of clinical suspicion. In this way, unnecessary anti-thyroid treatment can be prevented. © 2021, Acta Endocrinologica Foundation. All rights reserved.
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    CATAMENIAL DIABETIC KETOACIDOSIS
    (Acta Endocrinologica Foundation, 2022) Hekimsoy Z.; Eniseler E.B.; Erdem N.; Ozdemir N.
    Diabetic ketoacidosis (DKA) is a common medical emergency situation. In rare cases, glycemic changes associated with the menstrual cycle may create a predisposing factor for DKA. In the absence of facilitating factors that may cause DKA, catamenial DKA should be considered. In the patients with catamenial DKA, increasing the insulin dose 1-2 days before menstruation may prevent the development of hyperglycemia or DKA associated with menstrual cycle. In this study, we present a 21-year-old female with type 1 diabetes mellitus (DM) that recurrently applied to our hospital due to DKA a few days prior to menstrual bleeding. © 2022, Acta Endocrinologica Foundation. All rights reserved.
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    CONGENITAL ADRENAL HYPERPLASIA WITH COMPOUND HETEROZYGOUS I2 SPLICE AND P453S MUTATIONS
    (Acta Endocrinologica Foundation, 2022) Almacan B.; Ozdemir N.; Onay H.; Hekimsoy Z.
    Background. Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder caused by congenital deficiency of enzymes involved in cortisol biosynthesis from cholesterol in the adrenal cortex. In this article, we aimed to present a 29-year-old female patient with I2 splice point mutation detected in one allele and P453S mutation on the other allele of CYP21A2 gene associated with 21-hydroxylase deficiency. Her further investigation revealed that her mother had P453S mutation and her father had I2 splice mutation. Case report. A 29-year-old woman with CAH was admitted to our clinic with the request of pregnancy. Her physical examination revealed a height of 151 cm, weight 59 kg, body mass index 25.8 kg/m2. According to Tanner staging, she had Stage 3 breast development and pubic hair. Her laboratory test results were as follows: Glucose: 79 mg/dL (70-100 mg/dL), Creatinine: 0.6 (0.5-0.95 mg/ dL), Sodium: 138 mEq/L (135-145 mEq/L), Potassium: 4.4 mEq/L (3.5-5.1 mEq/L), Cortisol: 0.05 µg/dL, ACTH: <5.00 pg/mL (5-46 pg/mL), 17-OH progesterone: 7.67 ng/mL (0-3 ng/mL). Chromosome analysis revealed a 46, XX karyotype. CYP21A2 gene mutation analysis was performed for the patient whose clinical history and laboratory results were compatible with congenital adrenal hyperplasia. During the reverse dot blot analysis, I2 splice mutation in one allele and P453S mutation in the other allele were detected. Conclusion. Although the I2 splice mutation detected in our case was mostly associated with a salt-wasting form of CAH, it was thought that the other P453S mutation detected may explain the relatively good clinical course in our case. © 2022, Acta Endocrinologica Foundation. All rights reserved.
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    EPISODE OF ACUTE HEMOLYSIS DUE TO UNDIAGNOSED GLUCOSE-6-PHOSPHATE DEHIDROGENASE DEFICIENCY IN AN ADOLESCENT WITH NEWLY DIAGNOSED TYPE 1 DIABETES MELLITUS: CASE REPORT AND REVIEW OF LITERATURE
    (Acta Endocrinologica Foundation, 2023) Goren T.A.; Kilimci D.D.; Yigit Y.; Yildirim A.T.; Gulen H.; Ersoy B.
    Glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency is common in the community. The most important clinical manifestation of G6PD deficiency is acute hemolytic anemia due to oxidative stressors. Diabetes Mellitus (DM) can precipitate hemolysis in patients with G6PD deficiency. Here, we described a 15-year-old male with newly diagnosed type 1 DM (T1DM) and unknown G6PD deficiency who suffered from hemolytic anemia during normalization of blood glucose. On admission, the patient did not have ketoacidosis. After the patient's blood sugars were regulated with insulin therapy, he presented five days later with hemolytic anemia. The cause of hemolytic anemia was G6PD deficiency. The patient had no previous episodes of hemolysis and had no relevant family history. Hypoglycemia did not occur during blood glucose regulation. The return of blood sugar to normal after a long period of hyperglycemia was thought to be the possible cause of hemolysis. In conclusion, G6PD deficiency should be considered when there is an episode of hemolysis in newly diagnosed children and adolescents with T1DM, especially in the absence of ketoacidosis and hypoglycemia. © 2023, Acta Endocrinologica Foundation. All rights reserved.