Андрология и генитальная хирургия. 2018; 19: 31-39
АНДРОЛОГИЧЕСКОЕ ОБСЛЕДОВАНИЕ ПАЦИЕНТОВ С ЛЕГОЧНОЙ И СМЕШАННОЙ ФОРМАМИ МУКОВИСЦИДОЗА
https://doi.org/10.17650/2070-9781-2018-19-2-31-39Аннотация
Введение. Муковисцидоз – частое моногенное заболевание, вызванное мутациями гена CFTR. У большинства мужчин с муковисцидозом наблюдается бесплодие из-за обструктивной азооспермии, однако механизмы снижения фертильности у пациентов с муковисцидозом без обструкции семявыносящих путей, а также влияние генетических и средовых факторов на этот процесс недостаточно изучены.
Цель исследования – изучить влияние генотипа по гену CFTR, клинической формы муковисцидоза и возраста на мужскую репродуктивную систему и фертильность, гормональные и спермиологические показатели. Материалы и методы. Обследован 71 мужчина 17–39 лет (средний возраст 24,9 ± 5,3 года) с легочной (n = 34) и смешанной (n = 37) формами муковисцидоза. Выполнено клиническое, андрологическое и лабораторно-инструментальное обследование (ультразвуковое исследование органов мошонки, стандартное и биохимическое спермиологическое исследование и определение уровня гормонов).
Результаты. Гипоплазия яичек выявлена у 40,5 % мужчин c муковисцидозом. У 62 % пациентов обнаружены диффузные изменения придатков яичек, кисты придатков и/или яичек, у 10 % – симптомы гипогонадизма. У 88 % пациентов обнаружены спермиологические признаки двусторонней обструкции семявыносящих путей на уровне семявыносящих протоков и эпидидимиса, аплазии семенных пузырьков (азооспермия, олигоспермия, низкий pH и уровень фруктозы эякулята). Для смешанной формы муковисцидоза характерна обструкция семявыносящих протоков, более частые морфологические изменения в мошонке. У 23 % пациентов моложе 25 лет и у 72 % носителей мутации 3849+10kbC>T сохранялась проходимость семявыносящих протоков.
Заключение. Легочная форма муковисцидоза, молодой возраст и наличие мутации 3849+10kbС>T способствуют сохранению проходимости семявыносящих протоков и возможной фертильности у мужчин с муковисцидозом.
Список литературы
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21. Boyd J.M., Mehta A., Murphy D.J. Fertility and pregnancy outcomes in men and women with cystic fibrosis in the United Kingdom. Hum Reprod 2004;19(10):2238–43. DOI: 10.1093/humrep/deh405. PMID: 15243000.
22. Llabador M.A., Pagin A., LefebvreMaunoury C. et al. Congenital bilateral absence of vas defference: the impact of spermatogenesis quality on intracytoplasmic sperm injection outcomes in 108 men. Andrology 2015;3(3):473–80. DOI: 10.1111/andr.12019. PMID: 25755137.
23. Radpour R., Gourabi H., Dizaj A.V. et al. Genetic investigations of CFTR mutations in congenital absence of vas deferens, uterus and vagina as a cause of infertility. J Androl 2008;29(5):506–13. DOI: 10.2164/jandrol.108.005074. PMID: 18567645.
Andrology and Genital Surgery. 2018; 19: 31-39
ANDROLOGY EXAMINATION OF PATIENTS WITH PANCREATIC-SUFFICIENT AND PANCREATIC-INSUFFICIENT CYSTIC FIBROSIS
https://doi.org/10.17650/2070-9781-2018-19-2-31-39Abstract
Introduction. Cystic fibrosis (CF) is common monogenic disease resulted from CFTR gene mutations. A most of CF male patients are infertile due to the obstructive azoospermia, however, the mechanisms of the reduced fertility in male patients without the obstruction of seminal ducts, also as the influence of CFTR genotype on their development is understudied.
Objective is to assess an influence the effect of CFTR genotype, clinical form of CF and age on men reproductive system organs, fertility, and testosterone level and semen parameters in male patients with CF.
Materials and methods. We examined 71 Russian men (17–39 years old, mean 24.9 ± 5.3) with CF (pancreatic-sufficient, n = 34, and pancreatic-insufficient, n = 37). Clinical, andrology, laboratory and instrumental examination, including scrotal ultrasonography, biochemical semen, and hormonal analyses were performed.
Results. Testicular hypoplasia was reveled in 40,5 % CF patients. Diffuse alterations of epididymis, of epididymal and/or testicular cysts were detected in 62 % patients; 10 % of the patients presented symptoms of hypogonadism. As many as 88 % patients showed spermiological signs of bilateral obstruction of seminal ducts at the level of the vas deferens and epididymis, aplasia of the seminal vesicles (azoospermia, oligospermia, low pH and fructose level of the ejaculate). Pancreatic-insufficient CF is an unfavorable prognostic sign for the obstruction of vas deferens, morphological changes in the scrotum. Patients until 25 years (23 %) as 3849+10kb C>T mutation’s carriers (72 %) significantly more frequently presented preserved vas deferens.
Conclusion. Pancreatic-sufficient CF, young age and 3849+10kbС>T mutation are favorable factors presented preserved vas deferens and the possible fertility in men with CF.
References
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22. Llabador M.A., Pagin A., LefebvreMaunoury C. et al. Congenital bilateral absence of vas defference: the impact of spermatogenesis quality on intracytoplasmic sperm injection outcomes in 108 men. Andrology 2015;3(3):473–80. DOI: 10.1111/andr.12019. PMID: 25755137.
23. Radpour R., Gourabi H., Dizaj A.V. et al. Genetic investigations of CFTR mutations in congenital absence of vas deferens, uterus and vagina as a cause of infertility. J Androl 2008;29(5):506–13. DOI: 10.2164/jandrol.108.005074. PMID: 18567645.
