Infertility: Practical Clinical Issues for Routine Investigation of the Male Partner

Ferlin, Alberto

doi:10.3390/jcm9061644

Cited by 19 publications

(12 citation statements)

References 44 publications

(120 reference statements)

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“…Possible factors involved in determining female infertility can be investigated as early as this stage ( Table 2 ). For males, medical history, physical examination, sperm analysis, and ultrasound should be performed as shown in Table 3 ( 48 ).…”

Section: Methodsmentioning

confidence: 99%

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Practical Clinical and Diagnostic Pathway for the Investigation of the Infertile Couple

Garolla

Pizzol

Carosso³

et al. 2021

Front. Endocrinol.

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CapsuleThis expert opinion summarizes current knowledge on risk factors for infertility and identifies a practical clinical and diagnostic approach for the male and female partners of an infertile couple aimed to improve the investigation and management of fertility problems.BackgroundInfertility represents an important and growing health problem affecting up to 16% of couples worldwide. In most cases, male, female, or combined factor can be identified, and different causes or risk factors have been related to this condition. However, there are no standardized guidelines on the clinical-diagnostic approach of infertile couples and the recommendations concerning infertility are sometimes lacking, incomplete, or problematic to apply.ObjectiveThe aim of this work is to provide an appropriate clinical and diagnostic pathway for infertile couples designed by a multidisciplinary-team of experts. The rationale is based on the history and physical examination and then oriented on the basis of initial investigations. This approach could be applied in order to reduce variation in practice and to improve the investigation and management of fertility problems.MethodsProminent Italian experts of the main specialties committed in the ART procedures, including gynecologists, andrologists, embryologists, biologists, geneticists, oncologists, and microbiologists, called “InfertilItaly group”, used available evidence to develop this expert position.OutcomesStarting from the individuation of the principal risk factors that may influence the fertility of females and males and both genders, the work group identified most appropriate procedures using a gradual approach to both partners aimed to obtain a precise diagnosis and the most effective therapeutic option, reducing invasive and occasionally redundant procedures.ConclusionsThis expert position provides current knowledge on risk factors and suggests a diagnostic workflow of infertile couples. By using this step-by-step approach, health care workers involved in ART, may individuate a practical clinical management of infertile couples shared by experts.

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Section: Methodsmentioning

confidence: 99%

“…The first step for men with azoospermia, cryptozoospermia and severe oligozoospermia (<5 total million sperm), should be the assessment of testicular volume and sex hormones levels (48,73,78).…”

Section: Microbiological Assessmentmentioning

confidence: 99%

Practical Clinical and Diagnostic Pathway for the Investigation of the Infertile Couple

Garolla

Pizzol

Carosso³

et al. 2021

Front. Endocrinol.

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“…While this form treatment has enjoyed some success, knowing the genetic basis of the infertility (particularly for the most common genetic conditions such as cystic fibrosis gene mutations, Klinefelter syndrome, Y chromosome microdeletions, Noonan syndrome, and chromosomal translocations) may be important in counseling the patients on the likely health trajectory of their offspring and the possible benefits of using donor spermatozoa. See Ferlin and Foresta ( 224 ) for further detailed discussion of these issues from a clinical perspective.…”

Section: Clinical Significancementioning

confidence: 99%

The Role of Genetics and Oxidative Stress in the Etiology of Male Infertility—A Unifying Hypothesis?

Aitken

Baker

2020

Front. Endocrinol.

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Despite the high prevalence of male infertility, very little is known about its etiology. In recent years however, advances in gene sequencing technology have enabled us to identify a large number of rare single point mutations responsible for impeding all aspects of male reproduction from its embryonic origins, through the endocrine regulation of spermatogenesis to germ cell differentiation and sperm function. Such monogenic mutations aside, the most common genetic causes of male infertility are aneuploidies such as Klinefelter syndrome and Y-chromosome mutations which together account for around 20-25% of all cases of non-obstructive azoospermia. Oxidative stress has also emerged as a major cause of male fertility with at least 40% of patients exhibiting some evidence of redox attack, resulting in high levels of lipid peroxidation and oxidative DNA damage in the form of 8-hydroxy-2'-deoxyguanosine (8OHdG). The latter is highly mutagenic and may contribute to de novo mutations in our species, 75% of which are known to occur in the male germ line. An examination of 8OHdG lesions in the human sperm genome has revealed ∼9,000 genomic regions vulnerable to oxidative attack in spermatozoa. While these oxidized bases are generally spread widely across the genome, a particular region on chromosome 15 appears to be a hot spot for oxidative attack. This locus maps to a genetic location which has linkages to male infertility, cancer, imprinting disorders and a variety of behavioral conditions (autism, bipolar disease, spontaneous schizophrenia) which have been linked to the age of the father at the moment of conception. We present a hypothesis whereby a number of environmental, lifestyle and clinical factors conspire to induce oxidative DNA damage in the male germ line which then triggers the formation de novo mutations which can have a major impact on the health of the offspring including their subsequent fertility.

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“…Infertility is a multifactorial disorder affecting one out of six couples in Western countries, and male factor infertility is implicated in about 50% of cases [ 1 , 2 , 3 ].…”

Section: Introductionmentioning

confidence: 99%

“…To date, the conventional procedures for the evaluation of male factor infertility include physical examination, semen analysis and endocrine and imaging studies. Furthermore, since spermatogenesis is a highly specialized process, the identification of genetic factors that are not detected by traditional tests and impact upon fertility assumes a particular importance [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

TERRA: A Novel Biomarker of Embryo Quality and Art Outcome

Rocca

Dusi

Nisio

et al. 2021

Genes

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Telomeres are considered to be an internal biological clock, and their progressive shortening has been associated with the risk of age-related diseases and reproductive alterations. Over recent years, an increasing number of studies have focused on the association between telomere length and fertility, identifying sperm telomere length (STL) as a novel biomarker of male fertility. Although typically considered to be repeated DNA sequences, telomeres have recently been shown to also include a long non-coding RNA (lncRNA) known as TERRA (telomeric repeat-containing RNAs). Interestingly, males with idiopathic infertility show reduced testicular TERRA expression, suggesting a link between TERRA and male fertility. The aim of this study was to investigate the role of seminal TERRA expression in embryo quality. To this end, STL and TERRA expression were quantified by Real Time qPCR in the semen of 35 men who underwent assisted reproductive technologies (ART) and 30 fertile men. We found that TERRA expression in semen and STL was reduced in patients that underwent ART (both p < 0.001). Interestingly, TERRA and STL expressions were positively correlated (p = 0.010), and TERRA expression was positively associated with embryo quality (p < 0.001). These preliminary findings suggest a role for TERRA in the maintenance of sperm telomere integrity during gametogenesis, and for the first time, TERRA expression was found as a predictive factor for embryo quality in the setting of assisted reproduction.

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Infertility: Practical Clinical Issues for Routine Investigation of the Male Partner

Cited by 19 publications

References 44 publications

Practical Clinical and Diagnostic Pathway for the Investigation of the Infertile Couple

Practical Clinical and Diagnostic Pathway for the Investigation of the Infertile Couple

The Role of Genetics and Oxidative Stress in the Etiology of Male Infertility—A Unifying Hypothesis?

TERRA: A Novel Biomarker of Embryo Quality and Art Outcome

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