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    Öğe
    A rare cause of delayed puberty and primary amenorrhea: 17 alpha-hydroxylase enzyme deficiency
    (Springer, 2022) Beştaş, Aslı; Bolu, Semih; Ünal, Edip; Karakaya, Amine Aktar; Eroz, Recep; Tekin, Mehmet; Haspolat, Yusuf Kenan
    Aim 17 alpha-hydroxylase enzyme deficiency is a rare form of congenital adrenal hyperplasia (CAH) and is caused by mutations in the CYP17A1 gene. The main clinical findings are delayed puberty and primary amenorrhea in girls, and disorders of sex development in boys. It can also cause hypertension and hypokalemia in both genders. In this study, we aimed to present the clinical, laboratory and genetic results of 13 patients from eight different families who were diagnosed with complete 17 alpha-hydroxylase enzyme deficiency. Methods The age, symptoms, anthropometric measurements, blood pressure, Tanner stages, and hormonal and chromosome analysis results at the time of admission were recorded from the medical records of the patients. Whole gene next-generation sequencing of CYP17A1 gene was performed to detect mutations. Multiplex ligation dependent probe amplification (MLPA) method were used to detect deletions in the seven patients who had no point mutation were detected in the CYP17A1 gene. Results The average age of the patients at the time of admission was 14.8 (range: 12.9-16.6) years. Also at this time, all patients were in adolescence and were raised as females. The karyotypes of eight patients were 46,XY, and of five patients were 46,XX. Ten patients presented with delayed puberty and primary amenorrhea, one patient with delayed puberty and hypertension, and two patients with hypertension and/or hypokalemia. Hypertension and hypokalemia were detected in nine and seven patients, respectively. Conclusions P450c17 enzyme deficiency should be considered in patients presenting with delayed puberty or primary amenorrhea in the adolescence period and diagnosed with hypergonadotropic hypogonadism, if hypertension and hypokalemia accompany. Early diagnosis prevents the occurrence of important health problems such as hypertension, psychological problems, and gender identity disorders, which affect the majority of these patients.
  • [ X ]
    Öğe
    Smoking habits of nurses and midwives and their attitudes tobacco control; a primary care based study from four major cities of Turkey
    (Drunpp-Sarajevo, 2012) Aydin, Leyla Yilmaz; Baltaci, Davut; Ozturk, Serkan; Saritas, Ayhan; Eroz, Recep; Celepkolu, Tahsin; Yilmaz, Aylin
    It was aimed to investigate smoking habits, knowledge about and attitudes towards tobacco control among nurses and midwifes at primary care settings in Turkey. A cross-sectional survey was applied to nurses/midwives at primary care settings. 1063 surveys were analyzed in the study. Mean age of nurses/midwives was 33.7 +/- 6.3. Current, former and never smokers' ratio among nurses/midwives were 30.1 %, 10.6 % and 59.3 %, respectively. Knowledge of nurses/midwives was observed as quite high. Majority of never smokers significantly marked as higher agreement with items related to knowledge level about smoking by than ever smokers. The lowest ratio was observed in agreement with item of Pharmacotherapy is efficient for smoking cessation (46.6 %). the highest ratio was observed in agreement with item of Health professionals should routinely advise patients to avoid smoking around their children (97.5 %). Significant differences were observed in statement of agreement with items related to attitudes of the nurses/midwives towards smoking and tobacco control between never and ever smokers. Almost all of the nurses/midwives had no any training course on smoking cessation practice (99.6 %). Majority of them were not competent for preparedness in smoking cessation (competent: 17.4 % vs. incompetent or somewhat: 82.6 %). In conclusion, knowledge and skills in smoking cessation practice and attitudes towards smoking and tobacco control in nurses/midwives were observed as low and somewhat high. Therefore, an appropriate education program should be instituted to increase motivation of them about their role in society and smoking cessation practice.