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    A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family
    (Elsevier Science Inc, 2005) Bahceci, M; Ersay, AR; Tuzcu, A; Hiort, O; Richter-Unruh, A; Gokalp, D
    Objectives. To analyze the steroid 5-alpha reductase type 2 gene (SRD5A2) in 2 siblings with severe male pseudohermaphroditism suspected to have 5-alpha reductase deficiency in a Turkish family. Methods. Two female siblings of a family with 7 children were referred to the urology department because of bilateral inguinal masses. The patients had presented after birth with ambiguous genitalia, but no further diagnostic procedures had been performed, and they were raised as girls until the ages of 13 and 15 years. At this time, both had striking ambiguity of the genitalia, with a clitoris-like phallus, severely bifid scrotum, pseudovaginal perineoscrotal hypospadias, a rudimentary prostate, and inguinal testes. Karyotype was 46,XY. Basal and stimulated levels of serum testosterone (T), dihydrotestosterone (DHT), and T/DHT ratio indicated 5-alpha reductase deficiency. Molecular genetic analysis was performed on deoxyribonucleic acid from peripheral blood leukocytes by single-stranded conformational polymorphism analysis and direct sequencing. Results. Analysis of the SRD5A2 gene revealed a new homozygous missense mutation in exon 2. At codon 123, we identified a GGA to AGA change resulting in a missense amino acid change from glycine to arginine (G123R). Both parents and the 2 healthy sisters and 3 brothers were all heterozygous at codon 123 for the same mutation. Conclusions. We report a novel homozygous missense mutation in exon 2 of the 5-alpha reductase type 2 gene that led to severe undervirilization in 2 siblings.
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    Öğe
    Octreotide may be useful in diabetic foot ulcers with purulent discharge and deep penetrating sinuses
    (Bio Scientifica Ltd, 2005) Bahceci, M; Tuzcu, A; Gokalp, D; Akdeniz, S
    [Abstract Not Available]
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    Öğe
    Subclinical hypothyroidism may be associated with elevated high-sensitive c-reactive protein (low grade inflammation) and fasting hyperinsulinemia
    (Japan Endocrine Society, 2005) Tuzcu, A; Bahceci, M; Gokalp, D; Tuzun, Y; Gunes, K
    The association between coronary heart disease and subclinical hypothyroidism (SCH) is unclear. We aimed to determine hs-CRP concentrations in patients with SCH. Seventy-seven patients (age 34.6 +/- 13.7 yr) with SCH (TSH >4.2 muIU/ml and serum free thyroxine level between 0.932-1.71 ng/dL), and 80 control subjects (age 33.9 +/- 13.3 yr) were studied. Thyroid hormones, C-reactive protein, insulin, glucose, total, HDL, LDL and VLDL-cholesterol levels and HOMA-IR index were also determined. TSH levels of SCH group were higher than control (7.4 +/- 2.9 and 1.55 +/- 0.78 muIU/ml, respectively, p=0.0001). However, FT4 levels were lower than control subjects (1.18 +/- 0.22 ng/dL and 1.38 +/- 0.26, respectively, p=0.001). Serum hs-CRP levels of subjects with SCH were higher than control subjects (4.2 +/- 0.8 mg/l and 1.05 +/- 0.3 mg/l respectively, p=0.0001). Insulin levels of SCH group were higher than control (8.5 +/- 4.3 muU/ml and 7.1 +/- 3.1 muU/ml respectively, p<0.02) but, Homa-IR levels of the two groups were not different. Mean total and LDL-cholesterol levels of SCH group were higher than control (p=0.01 and p<0.02). We also found a positive correlation between hs-CRP levels and insulin (r=0.362, p=0.002 in men, r=0.358, p=0.0001 in women), TSH (r=0.611, p=0.0001 in men, r=0.411 p=0.0001 in women), and prolactin (r=0.340, p=0.01 in men r=0.553, p=0.0001 in women). Conclusions: Patients with SCH, irrespective of gender, have higher serum hs-CRP, insulin, total and LDL-cholesterol levels than healthy subjects. 2-High hs-CRP level, and thereby low grade inflammation may be associated with fasting hyperinsulinemia before insulin resistance becomes evident in patients with SCH.