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Prematür ovaryen yetmezlikli hastalarda karyotip değerlendirmesi

Caryotype evolution in patients with premature ovarian failure

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  1. Tez No: 482921
  2. Yazar: ASLI AKDÖNER
  3. Danışmanlar: PROF. DR. MURAT CELİLOĞLU
  4. Tez Türü: Tıpta Uzmanlık
  5. Konular: Kadın Hastalıkları ve Doğum, Obstetrics and Gynecology
  6. Anahtar Kelimeler: Belirtilmemiş.
  7. Yıl: 2017
  8. Dil: Türkçe
  9. Üniversite: Dokuz Eylül Üniversitesi
  10. Enstitü: Tıp Fakültesi
  11. Ana Bilim Dalı: Kadın Hastalıkları ve Doğum Ana Bilim Dalı
  12. Bilim Dalı: Belirtilmemiş.
  13. Sayfa Sayısı: 83

Özet

AMAÇ: Kromozom anomalileri, prematür ovaryen yetmezliğin önemli nedenlerinden birisidir ve reprodüktif yönetimde kromozom analizinin önemi doğrulanmıştır. Sayısal ve yapısal kromozom anomalileri, özellikle X kromozomunun yapısal anomalileri (translokasyonlar, delesyonlar, izokromozomlar), X-otozomal kromozom translokasyonları ve ilişkili X kromozomu anöploidileri literatürde en çok tanımlanan kromozom anomalileridir. Bu çalışmada, kliniğimizde takip edilmiş prematür ovaryen yetmezlikli hastalarda kromozom anomalilerinin sıklığını ve tipini değerlendirmek, bulguları güncel literatür ışığında tartışmak ve sonuçların yeni çalışmalara öncü olmasını sağlamak amaçlandı. YÖNTEM: Çalışma, 01.03.2017-10.04.2017 tarihleri arasında Dokuz Eylül Üniversitesi Hastanesi Kadın Hastalıkları ve Doğum Anabilimdalı Üreme Endokrinolojisi ve İnfertilite, Menopoz Polikliniğinde gerçekleştirildi. Çalışmaya Dokuz Eylül Üniversitesi Etik Kurulu'ndan etik kurul onayı alındıktan sonra başlandı. Dokuz Eylül Üniversitesi Kadın Hastalıkları ve Doğum Anabilimdalı Üreme Endokrinolojisi ve İnfertilite, Menopoz Polikliniği arşivinden 2002-2017 yılları arasında prematür ovaryen yetmezlik tanısı ile takip edilen hastaların dosyaları tarandı. 65 Hasta çalışmaya dahil edildi. Hastaların yaşları, sigara, alkol kullanımları, menarş yaşı, HRT alıp almadıkları, ek hastalıkları, obstetrik öyküleri, doğumda anne ve babalarının yaşları, dosya bilgilerinden tarandı. POF açısından soygeçmişleri- anne, anneanne, teyze, kız kardeş menopoz yaşları, ailede MR'li birey öyküsü kaydedildi. Hastaların laboratuar sonuçları dosya bilgilerinden kaydedildi. FSH, LH, Estradiol, Prolaktin, TSH, fT3, fT4, Anti-TPO, Anti-TG, TRAB, Kortizol, ANA, İnsülin, Açlık Glikoz değeri, LDL, HDL, Trigliserit, Total Kolesterol, Anti Müllerian Hormon değerleri, DEXA ölçümleri ve mamografi sonuçları dosya bilgilerinden kaydedildi. Karyotip sonuçları dosya bilgilerinden kaydedildi. İstatistiksel analiz için The Statistical Program for Social Sciences(SPSS,version 15) kullanıldı. Analizde Mann-Whitney U Testi, Fisher Kesin Test, Pearson ve Spearman korelasyon analizi kullanıldı. p

Özet (Çeviri)

PURPOSE: Chromosome anomalies are one of the major causes of premature ovarian failure and the importance of chromosome analysis in reproductive management has been confirmed. Numerical and structural chromosome anomalies, especially structural anomalies of the X chromosome (translocations, deletions, isochromosomes), X-autosome translocations and X-chromosome aneuploidies, are the chromosome anomalies most commonly described in the literature. In this study, we aimed to evaluate the frequency and type of chromosomal anomalies in the patients with premature ovarian failure admitted to our clinic and to discuss the findings in the light of current literature and to provide guidance to new studies. METHODS: The study was conducted between 1 March and 10 April 2017 in the Division of Reproductive Endocrinology and Infertility in the Department of Obstetrics and Gynecology at Dokuz Eylul University. The study was started after it was approved by the Ethics Committee of Dokuz Eylul University. The files of the patients, who were diagnosed with premature ovarian failure between 2002 and 2017, were screened from the archive of the Division of Reproductive Endocrinology and Infertility in the Department of Obstetrics and Gynecology at Dokuz Eylul University. 65 patients were included in the study. Information about age, smoking, alcohol use, age at menarche, HRT usage, additional disease, obstetric history, and age of parents at birth were obtained from file information.Family history of premature ovarian failure (POF), age of menopause of mother, grandmother, aunt, and sister and family history of mentally retarded males were recorded. The laboratory results of the patients were obtained from file information. FSH, LH, estradiol, prolactin, TSH, fT3, fT4, Anti-TPO, Anti-TG, TRAB, cortisol, ANA, Insulin, fasting blood glucose, LDL, HDL, triglyceride, total cholesterol, anti-Mullerian hormone levels, DEXA measurements and mammogram results were recorded from file information. The caryotype results were recorded from file information. The Statistical Program for Social Sciences (SPSS, version 15) was used for statistical analysis. The Mann-Whitney U test, Fisher's exact test, and Pearson and Spearman correlation analysis were used in the analysis.P-values ≤0.05 were considered to be statistically significant. FINDINGS: The results of 65 cases with premature ovarian failure were examined. The age at diagnosis ranged from 18 to 39 years. The mean age at diagnosis was 32.6 years.The mean BMI was 23.4 (kg/m²). Of the cases, 17 (26.2%) had smoked cigarettes and 9 (13.8%) had consumed alcohol. 55 (84.6%) cases had no any additional disease. However,2 (3.1%) cases had diabetes mellitus (Type 1 DM), 2 (3.1%) cases had hypertension,5 (7.7%) cases had hypothyroidism, and 1 (1.5%) case had FMF. There was no a family history of mentally retarded males in any cases. 1 (1.5%) case had a history of pregnancy after diagnosis.60 (92.3%) cases had a normal karyotype (46+XX). 5 (7.7%) cases had an abnormal karyotype. Of the cases with abnormal karyotypes, 4 had 46+XX/45+X and 1 had 46+XY/45+X. There was no statistically significant difference between the cases with normal and abnormal karyotypes in terms of the smoking, alcohol use, history of additional disease, history of pregnancy after diagnosis, history of gravida, para and abortus, HRT usage, DEXA measurements, and mammogram results (p>0.05). There was no statistically significant difference between the cases with normal and abnormal karyotypes in terms of the FSH, LH, E2, TSH, fT4, TRAB, Anti-TPO, Anti-TG, ANA, insulin, cortisol, LDL, HDL, triglyceride, total cholesterol, prolactin, fasting blood glucose and anti-Mullerian hormone levels. Anti-TG was negative in 56 (86.2%) cases and positive in 9 (13.8%) cases. Anti-TPO was positive in 12 (18.5%) cases and negative in 53 (81.5%) cases. TRAB was negative in all cases. ANA was positive in 2 cases and negative in 63 cases. The mean value of fT3 was 2.8±0.75 in the cases with normal karyotypes. The mean value of fT3 was 1.6±1.07 in the cases with abnormal karyotypes. There was a statistically significant difference between the cases with normal and abnormal karyotypes in terms of the mean value of fT3 (p:0.019). There was no statistically significant difference between the cases with normal and abnormal caryotypes in terms of caryotype and the age at menarche (p:0.155). There was no statistically significant difference between the cases with normal and abnormal karyotypes in terms of the age of parents at birth and the age of menopause of mother, grandmother, aunt, and sister. DEXA result was reached in 37 of 65 cases. Of the cases with normal caryotypes, 26 (43.1%) had a normal result and 9 (13.8%) had osteopenia. DEXA result was normal in 2 cases with abnormal caryotypes. There was no statistically significant difference between the cases with normal and abnormal caryotypes in terms of the smoking, alcohol use, HRT usage, family history of mentally retarded males, history of pregnancy after diagnosis, DEXA measurements, history of gravida, para and abortus, and history of additional disease. 2 cases had primary amenorrhea. Of these cases, 1 had45,X/46,XY mosaicism and 1 had 46,XX caryotype. There was a statistically significant negative correlation between the age at diagnosis and the age of menopause of grandmother and aunt. There were no statistically significant correlations between the age at diagnosis, the age at menarche and the age of parents at birth, the age of menopause of mother and sister. RESULT: In our study, among 65 cases with POF, 5 (7.7%) cases were found to have chromosome anomalies. Of the cases with abnormal caryotypes, 4 had 46+XX/45+X and 1 had 46+XY/45+X. 2 (3.1%) cases had diabetes mellitus (Type 1 DM), 2 (3.1%) cases had hypertension,5 (7.7%) cases had hypothyroidism, and 1 (1.5%) case had FMF.Anti-TPO positivity was detected as 18.5%. Moreover, anti-TG positivity was detected as 13.8%andANA positivity was detected as 3.1%. TRAB was negative in all cases. The mean value of fT3 was also significantly lower in the cases with abnormal caryotypes than in the cases with normal caryotypes. There was no statistically significant difference between the cases with normal and abnormal caryotypes in terms of the age at diagnosis and the age of menopause of mother and sister. It was found that the age at diagnosis of the cases decreased with the increase in the age of menopause of grandmother and aunt. KEYWORDS: Premature Ovarian Failure, Caryotype, Genetics, Ovarian Aging

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