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Y-Chromosome Microdeletion in Azoospermic Patients and its Relationship with Spermatogenesis

خبن الصبغي Y لدى مرضى انعدام النطاف و علاقته مع الإنطاف

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 Publication date 2014
  fields Medicine
and research's language is العربية
 Created by Shamra Editor




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Background& Objective: Microdeletions of the Y-chromosome removing the azoospermia factor (AZF) region are the most frequent molecular genetic cause of spermatogenic failure. Although there is still no definitive consensus on the relationship between the type of microdeletion and the resulting sperm defect, microdeletions in AZFa lead mostly to Sertoli cell only syndrome, mutations in AZFb provoke interruption in meiosis I and mutations in AZFc result in hypospermatogenesis. Our objective is to evaluate the frequency and types of Y-chromosome microdeletions in patients with idiopathic nonobstructive azoospermia (NOA) and its relationship with successful sperm retrieval.


Artificial intelligence review:
Research summary
تتناول هذه الدراسة الخبن الصبغي Y لدى مرضى انعدام النطاف غير الانسدادي المجهول السبب، وتهدف إلى تقييم انتشار أنماط الخبن المختلفة وعلاقتها بإمكانية استخراج النطاف من الخصية. أجريت الدراسة على 393 مريضًا في سوريا بين عامي 2009 و2012، حيث تم تحليل السائل المنوي والنمط الصبغي واختبار الخبن الصبغي Y باستخدام تقنية تفاعل البوليميراز المتسلسل (PCR) واستخراج النطاف من الخصية. أظهرت النتائج أن نسبة انتشار الخبن الصبغي Y بلغت 14%، وكان خبن الموضع AZFb الأكثر شيوعًا بنسبة 49.1%، تلاه AZFc وAZFd وAZFa. تم العثور على النطاف في 57.9% من حالات خبن AZFc، بينما كانت غائبة في بقية الأنماط. توصي الدراسة بإجراء الفحوصات الوراثية الجزيئية والاستشارة الوراثية قبل اتباع تقنيات الإخصاب المساعد لما لذلك من أهمية في وضع الإنذار الدقيق والتدبير المناسب.
Critical review
دراسة نقدية: تعتبر هذه الدراسة خطوة مهمة في فهم العلاقة بين الخبن الصبغي Y وفشل الإنطاف لدى مرضى انعدام النطاف غير الانسدادي. ومع ذلك، يمكن توجيه بعض الانتقادات البناءة. أولاً، حجم العينة قد يكون غير كافٍ لتعميم النتائج على نطاق أوسع، خاصةً في ظل التنوع الجغرافي والعرقي. ثانيًا، لم تتناول الدراسة بشكل كافٍ العوامل البيئية أو الصحية الأخرى التي قد تؤثر على نتائج الإنطاف. ثالثًا، كان من الممكن أن تكون الدراسة أكثر شمولية إذا تضمنت مقارنة بين نتائج المرضى الذين خضعوا لتقنيات الإخصاب المساعد والذين لم يخضعوا لها. على الرغم من هذه النقاط، فإن الدراسة تقدم إسهامًا قيمًا في مجال الطب التناسلي وتفتح الباب لمزيد من الأبحاث المستقبلية.
Questions related to the research
  1. ما هو الهدف الرئيسي من هذه الدراسة؟

    الهدف الرئيسي هو تقييم انتشار أنماط الخبن الصبغي Y لدى مرضى انعدام النطاف غير الانسدادي المجهول السبب وعلاقتها بإمكانية استخراج النطاف من الخصية.

  2. ما هي النسبة المئوية لانتشار الخبن الصبغي Y بين المرضى في الدراسة؟

    بلغت نسبة انتشار الخبن الصبغي Y بين المرضى 14%.

  3. أي نمط من الخبن الصبغي Y كان الأكثر شيوعًا في الدراسة؟

    كان خبن الموضع AZFb هو الأكثر شيوعًا بنسبة 49.1%.

  4. ما هي التوصيات التي قدمتها الدراسة بناءً على نتائجها؟

    أوصت الدراسة بإجراء الفحوصات الوراثية الجزيئية والاستشارة الوراثية قبل اتباع تقنيات الإخصاب المساعد لوضع الإنذار الدقيق والتدبير المناسب.


References used
Sherrod RA. Understanding the emotional aspects of infertility: Implications for nursing practice. J. Psychosocial Nurs. Mental Health Services 2004;42: 40-7
Balkan M, Tekes S, Gedik A. Cytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoo- spermia and Azoospermia in Southeast Turkey. J Assist Reprod Genet. 2008;25:559–65
Zhu YJ, Liu SY, Wang H, Wei P, Ding XP. The prevalence of azoospermia factor microdeletion on the Y chromosome of Chinese infertile men detected by multi-analyte suspension array technology. Asian J Androl. 2008;10(6):873–81
World Health Organization. Towards more objectivity in diagnosis and management of male fertility. Int J Androl. 1987;7(Suppl):1– 53
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