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1.
Hum Fertil (Camb) ; 25(5): 939-946, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34190021

RESUMO

Infertility is a common health problem that affects around 1 in 6 couples in the United States, where half of these cases are attributed to male factors. Genetics play an important role in infertility and it is estimated that up to 50% of cases are due to genetic factors. Despite this, many male infertility cases are still idiopathic. This study aimed to identify the presence of possibly pathogenic rare variants in a set of candidate genes related to azoospermia in 69 Jordanian men using a next-generation sequencing-based panel covering more than a hundred male infertility related genes. A total of 9 variants were found and validated. Among them, two variants included reported pathogenic variants in CFTR and one novel pathogenic variant in the USP9Y gene. We also report the detection of 6 other variants with uncertain significance in other genes. Interestingly, male cases with CFTR variants did not show the expected cystic fibrosis phenotypes except for infertility. This work helps to uncover the contribution of additional genetic factors to the aetiology of male infertility and highlights the importance to obtain more reliable information about the presence of genetic variation in the Jordanian population.


Assuntos
Azoospermia , Infertilidade Masculina , Oligospermia , Masculino , Humanos , Azoospermia/genética , Azoospermia/diagnóstico , Oligospermia/genética , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Jordânia , Mutação , Infertilidade Masculina/genética
2.
Andrologia ; 52(9): e13791, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32790205

RESUMO

Male infertility is linked to some viral infections including human papillomavirus (HPV), herpes simplex viruses (HSV) and human immunodeficiency viruses (HIVs). Almost nothing is known about severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) effect on fertility. The possible risk factors of coronavirus disease 2019 (COVID-19) infection on fertility comes from the abundance of angiotensin-Converting Enzyme-2 (ACE2), receptor entry of the virus, on testes, a reduction in important sex hormone ratios and COVID-19-associated fever. Recent studies have shown a gender difference for COVID-19 rates and comorbidity. In this review, we will discuss the potential effect of COVID-19 on male fertility and talk about what needs to be done by the scientific community to tackle our limited understanding of the disease. On the other side, we will focus on what is known so far about the risk of COVID-19 on pregnancy, neonatal health and the vertical transfer of the virus between mothers and their neonates. Finally, because reproduction is a human right and infertility is considered a health disease, we will discuss how assisted reproductive clinics can cope with the pandemic and what guidelines they should follow to minimise the risk of viral transmission.


Assuntos
Infecções por Coronavirus/complicações , Transmissão Vertical de Doenças Infecciosas , Infertilidade Masculina/virologia , Pneumonia Viral/complicações , Complicações Infecciosas na Gravidez/virologia , Saúde Reprodutiva , Enzima de Conversão de Angiotensina 2 , Betacoronavirus/isolamento & purificação , Betacoronavirus/metabolismo , Betacoronavirus/patogenicidade , COVID-19 , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/transmissão , Infecções por Coronavirus/virologia , Feminino , Infecções por HIV/complicações , Infecções por HIV/transmissão , Infecções por HIV/virologia , Herpes Simples/complicações , Herpes Simples/transmissão , Herpes Simples/virologia , Humanos , Infertilidade Masculina/patologia , Masculino , Pandemias , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/transmissão , Infecções por Papillomavirus/virologia , Peptidil Dipeptidase A/metabolismo , Pneumonia Viral/epidemiologia , Pneumonia Viral/transmissão , Pneumonia Viral/virologia , Gravidez , Fatores de Risco , SARS-CoV-2 , Glicoproteína da Espícula de Coronavírus/metabolismo , Testículo/metabolismo , Testículo/patologia
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