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    BMP4 mutations as a novel cause of normosmic hypogonadotropic hypogonadism
    (Karger, 2019) Topaloglu, A. Kemal; Yildirim, Ruken; Kotan, Leman Damla; Akkus, Gamze; Unal, Edip; Turan, Ihsan; Dilek, Semine
    [Abstract Not Available]
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    Evaluation of Clinical Characteristics of Vitamin D Dependent Rickets Type 1 (VDDR-1) Patients and Importance of Early Diagnosis
    (Galenos Publ House, 2022) Yildirim, Ruken; Unal, Edip; Tekmenuray, Aysel
    Introduction: Vitamin D-dependent rickets type 1 (VDDR-1) is an autosomal recessive disorder caused by 1-a-hydroxylase enzyme deficiency. This rare disease occurs due to biallelic pathogenic variants in the CYP27B1 gene. We evaluated VDDR-1 patients retrospectively in terms of clinical and biochemical characteristics, treatment response, and genetic results. Materials and Methods: VDDR-1 cases with biallelic variants in CYP27B1 from 12 families were included. Demographic and clinical data were extracted from records. Following DNA isolation and standardized PCR, we performed nextgeneration sequencing with Miseq device. Data analysis was performed using IGV 2.3 software. Results: The cohort included 22 patients, 11 (50%) female and 11 male. Median age at diagnosis was 12 (7.75-18) months. Mean calcium, phosphorus, alkaline phosphatase (ALP) and vitamin D concentration was 7.6 +/- 0.98 mg/dL, 2.9 +/- 0.77 mg/dL, 1149 +/- 692 IU/L, 391 +/- 181 pg/mL, and 55 +/- 38 ng/mL, respectively at diagnosis The most common reasons for presentation were growth retardation, short stature, convulsions, and extremity deformity. The most common variant was the previously identified c.195 + 2T>G substitution, which was detected in 5 families. The second most common variant was another previously reported c.574A>G (p.Lys192Glu) variant, which was detected in 3 families. c.171delC (p.Leu.58Cfs*20), c.240delT (p.Phe80Leufs*79), and c.1166G>A(p.Arg389His) homozygous variants and c.1215_1215+2delinsCGA/c.1474C>T (p.Arg492Trp) compound heterozygous variant were detected in one family each. Conclusion: VDDR-1 should be considered in rickets patients not recovering with high-dose vitamin D therapy. Delayed diagnosis of VDDR-1 may lead to unnecessary orthopedic surgery in some cases. We are of the opinion that providing early diagnosis, treatment and genetic counseling will give reliable and important information to families.
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    Final Height in GnRH Analogue Treatment in Girls Diagnosed with Early Puberty: Comparison with Untreated Controls
    (Galenos Publ House, 2022) Karakaya, Amine Aktar; Unal, Edip; Bestas, Asli; Yildirim, Ruken
    Introduction: In this retrospective study, it was aimed to examine the effect of gonadotropin-releasing hormone (GnRH) analogue treatment on final height in girls diagnosed with early puberty (EP) between the ages of 8 and 10. Materials and Methods: In the study, 87 girls who were diagnosed with EP and reached the final height were included. Two groups, those who received GnRH analogue treatment and those who did not, were formed. The average age, bone age, average height, height standard deviation score (SDS), body mass index SDS, target height, predicted adult height of the groups at the time of admission were calculated. The final height they reached and their menarche ages were noted. Results: No difference was found between the groups in terms of average age, average height, height SDS, bone age, body mass index SDS at the time of admission. The target height, predicted adult height, final height and the SDS of these were similar in both groups. All cases in both groups reached the target height. Conclusion: It was determined that the GnRH analogue treatment did not make a positive contribution to the final height in the EP group, who were between the ages of 8 and 10. Therefore, it can be recommended to use GnRHa treatment in EP patients with psychosocial problems and for delaying menarche.
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    Hereditary Spherocytosis: Evaluation of 68 Children
    (Springer India, 2015) Konca, Capan; Soker, Murat; Tas, Mehmet Ali; Yildirim, Ruken
    To determine the clinical and hematologic features of 68 children with hereditary spherocytosis (HS). In this retrospective study, we analyzed recorded information of 68 HS patients diagnosed between March 1997 and March 2007, including clinical manifestations at admission, gender, median age at diagnosis, family history, hematologic and biochemical data, patient management, complications, median age of splenectomy, and median follow-up time. Sixty-eight patients with HS (36 male and female) were investigated. The median age at diagnosis was 5.6 years (range 3 months to 18 years). Twenty-seven (39.7 %) had parents with consanguineous marriages, and 20 (29.4 %) had parents with first-degree consanguinity. Predominant clinical manifestations at admission were anemia in 59 patients (86.76 %), splenomegaly in 49 (72.05 %), and jaundice in 33 (48.52 %). Patients were classified as mild, moderate, or severe in 29.4, 61.7, and 8.8 % of patients, respectively. Five patients (7.3 %) underwent splenectomy. Major complications of HS were hemolytic, aplastic, and megaloblastic crises and cholelithiasis in 7 (10.2 %), 1 (1.4 %), 7 (10.2 %), and 6 (8.8 %) of patients, respectively. There were no deaths during follow-up. HS should be considered in evaluating possible diagnoses in patients with hemolytic anemia. In this study, the clinical course of patients with HS was relatively benign, with low proportions of patients having splenectomized and aplastic crises.
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    Splenectomy in patients with thalassemia major: Evaluation of 35 cases
    (Dr Behcet Uz Cocuk Hastaliklari Ve Cerrahisi, 2013) Konca, Capan; Yildirim, Ruken; Dikici, Bünyamin; Tas, Mehmet Ali
    Objective: Beta-thalassemia is common, worldwide, autosomal recessive and inherited type of anemia which results from absent or reduced synthesis of beta globin. Splenectomy may be performed for the treatment of many hematologic diseases. The aim of this study is to discuss recorded data of thalassemia major patients who underwent splenectomy. Methods: The records of 782 patients with thalassemia major were reviewed retrospectively. Of these patients, 35 splenectomized patients with available data were included in the study. Recorded data of patients were evaluated as for age at diagnosis, gender, age at splenectomy, surgical indications, chelation therapy, annual transfusion requirements, and postoperative clinical response. Statistical analyses were performed with statistical package of SPSS version 13.0. Results: Twenty-two (63%) male and 13 (37%) female patients were included in the study. Mean age at diagnosis was 8 +/- 2 months and splenectomy was 8.5 years. The main indication for splenectomy was increased transfusion requirement (57.14%). The annual transfusion requirement reduced from preoperative 235 +/- 30 mL/kg to 115 +/- 15 mL/kg postoperatively. Mean serum ferritin levels were 1745 +/- 761 ng/mL, and 1985 +/- 570 ng/mL before, and after splenectomy. None of the patients developed any complications such as sepsis or coagulation disorder. Conclusion: These results suggest that splenectomy is beneficial to improve the quality of the lives of patients and significantly reducing blood consumption. Inadequate iron chelation therapy may be associated with progression to splenectomy.
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    Subclinical hypothyroidism and long QT
    (Wiley, 2018) Akin, Alper; Unal, Edip; Yildirim, Ruken; Ture, Mehmet; Balik, Hasan; Haspolat, Yusuf Kenan
    [Abstract Not Available]