Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review

Abstract Background Much interest has not been placed on the role of chromosomal abnormalities in the pathogenesis and rising prevalence of infertility in recent times. This review was conducted to renew public interest on the chromosomal basis of infertility, testing, and management. Main text Meiotic and post-zygotic mitotic errors may cause infertility-predisposing chromosomal abnormalities, including Klinefelter syndrome, Jacob syndrome, Triple X syndrome, Turner syndrome, and Down syndrome. Chromosomal abnormalities such as deletion, translocation, duplication, inversion, and ring chromosome may also predispose to infertility. Notable features of male chromosomal infertility include spermatogenic failure, characterized by azoospermia, oligospermia, and gonadal dysgenesis, while females include premature ovarian insufficiency, amenorrhea, spontaneous abortion, and gonadal dysgenesis. The risk of these abnormalities is influenced by maternal age and environmental factors such as chemical exposure, smoking, and alcohol consumption. Most chromosomal abnormalities occur spontaneously and are not treatable. However, early prenatal screening and diagnostic tests can lessen the effects of the conditions. There is also a growing belief that certain diets and drugs capable of changing gene expressions can be formulated to neutralize the effects of chromosomal abnormalities. Conclusion Meiotic and mitotic errors during gametogenesis and fetal development, respectively, can cause chromosomal abnormalities, which predispose to infertility. Couples who are at increased risk, particularly those with a family history of infertility and women at an advanced age (≥ 35 years), should seek medical advice before getting pregnant.

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Concomitant autoimmunity may be a predictor of more severe stages of endometriosis

Scientific Reports ◽

10.1038/s41598-021-94877-z ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Vanni Valeria Stella ◽

Villanacci Roberta ◽

Salmeri Noemi ◽

Papaleo Enrico ◽

Delprato Diana ◽

...

Keyword(s):

Autoimmune Disease ◽

Adaptive Immune System ◽

Stage Iv ◽

Multivariate Logistic Regression Model ◽

Medical Patients ◽

Laparoscopic Procedures ◽

Logistic Analysis ◽

Increased Risk ◽

History Of

AbstractPathogenesis of endometriosis is still unclear and a role of both innate and adaptive immune system has been postulated. Some recent findings have revealed an increased risk to have concomitant autoimmune disease in women with endometriosis, but no study so far has investigated whether this association could affect endometriosis severity and stage. We retrospectively reviewed medical patients’ notes of women with a confirmed diagnosis of endometriosis who referred to our endometriosis outpatient clinic between January 2015 and December 2019. Cases (endometriosis and an autoimmune disease) were matched in a 1:3 ratio by age and study period with controls (endometriosis without history of autoimmunity). At univariate logistic analysis, concomitant autoimmunity (OR 2.63, 95% CI 1.64–4.21, p < 0.001) and the number of laparoscopic procedures performed (OR 2.81, 95% CI 1.45–5.43, p = 0.002) emerged as factors significantly associated with the likelihood of stage IV endometriosis. In the multivariate logistic regression model, concomitant autoimmunity remained a significant predictor of stage IV endometriosis (OR 2.54, 95% CI 1.57–4.10, p = 0.004), whereas the association between the number of laparoscopic procedures performed and stage IV endometriosis was found to be of borderline-significance (OR 2.70, 95% 1.37–5.30, p = 0.050). Our findings suggest that endometriosis is more severe in patients who are also affected by autoimmune disturbances after controlling for relevant confounders.

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CHEK2∗1100delC Mutation and Risk of Prostate Cancer

Prostate Cancer ◽

10.1155/2014/294575 ◽

2014 ◽

Vol 2014 ◽

pp. 1-9 ◽

Cited By ~ 24

Author(s):

Victoria Hale ◽

Maren Weischer ◽

Jong Y. Park

Keyword(s):

Prostate Cancer ◽

Current Knowledge ◽

Prostate Cancer Screening ◽

Critical Role ◽

Prostate Cancer Risk ◽

Conclusive Evidence ◽

Increased Risk ◽

History Of ◽

Cancer Studies

Although the causes of prostate cancer are largely unknown, previous studies support the role of genetic factors in the development of prostate cancer.CHEK2plays a critical role in DNA replication by responding to double-stranded breaks. In this review, we provide an overview of the current knowledge of the role of a genetic variant, 1100delC, ofCHEK2on prostate cancer risk and discuss the implication for potential translation of this knowledge into clinical practice. Currently, twelve articles that discussedCHEK2∗1100delC and its association with prostate cancer were identified. Of the twelve prostate cancer studies, five studies had independent data to draw conclusive evidence from. The pooled results of OR and 95% CI were 1.98 (1.23–3.18) for unselected cases and 3.39 (1.78–6.47) for familial cases, indicating thatCHEK2∗1100delC mutation is associated with increased risk of prostate cancer. Screening for CHEK2∗1100delC should be considered in men with a familial history of prostate cancer.

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Sex Differences in Inmates: Anger, Sensitivity to Provocation and Family History of Imprisonment

International Journal of Offender Therapy and Comparative Criminology ◽

10.1177/0306624x211049189 ◽

2021 ◽

pp. 0306624X2110491

Author(s):

Marta Bodecka-Zych ◽

Anna Zajenkowska ◽

Mary Bower Russa

Keyword(s):

Family History ◽

Comparison Group ◽

Female Inmates ◽

Male And Female ◽

Female Prisoners ◽

Increased Risk ◽

Incarcerated Populations ◽

History Of ◽

Male Prisoners

Little research has explored the role of aggression, anger, and family history of incarceration as they relate to female offenders. The current study aimed to address this gap in the literature by investigating these possible risk factors for incarceration among both men and women. The survey involved 123 (61 female and 62 male) prisoners convicted for violent crimes and a comparison group of 118 (60 female and 58 male) adults from the community. We found that women (convicted and non-convicted) were more sensitive to provocation than men, while community adults showed higher levels of trait anger than prisoners. Detainees were more likely than community adults to have a relative in prison. Although male and female inmates were equally likely to have a relative in prison, they differed in their relation to the imprisoned relative. Male and female prisoners showed increased risk for incarceration of same sex, first degree relatives (father and brothers for men, and mothers for women). These results may contribute to improved understanding of incarcerated populations. As such, this represents a critical first step in creating recovery programs that are more gender appropriate.

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Investigating Association of rs5918 Human Platelets Antigen 1 and rs1800790 Fibrinogen β Chain as Critical Players with Recurrent Pregnancy Loss

Medical Sciences ◽

10.3390/medsci6040098 ◽

2018 ◽

Vol 6 (4) ◽

pp. 98 ◽

Cited By ~ 3

Author(s):

Fatemeh Karami ◽

Maliheh Askari ◽

Mohammad Modarressi

Keyword(s):

Pregnancy Loss ◽

Recurrent Pregnancy Loss ◽

Human Platelets ◽

P Value ◽

Increased Risk ◽

History Of ◽

Polymerase Chain ◽

Β Chain ◽

Larger Sample

Thrombophilia gene variants have been shown to be associated with higher risk of recurrent pregnancy loss (RPL). Due to the role of human platelets antigen 1 (HPA-1) and fibrinogen β chain (FGB) as critical players in the coagulation process, their most important variants including rs5918 T > C and rs1800790 G > A were selected to be studied in women affected by RPL. Three milliliters of peripheral blood were drawn from 110 women with history of at least two consecutive spontaneous abortion and 110 healthy women controls. rs5918 T > C and rs1800790 G > A of HPA-1 and FGB genes, respectively, were selected to be analyzed through polymerase chain reaction-restriction fragment length polymorphism (PCR_RFLP) following DNA isolation using QIAamp DNA Blood Mini Kit. Heterozygote genotype (TC) of HPA-1 gene rs5918 polymorphism was significantly associated with risk of RPL (p-value = 0.02). Although, rs1800790 G > A of FGB gene was not associated with RPL, its combination with rs5918 polymorphism was associated with increased risk of RPL. Owing to the critical roles of FGB and HPA-1 genes in coagulation, and thrombosis and several confinements on the meaningful association between the combination of those polymorphism with risk of RPL, including them in the thrombophilia panel may increase detection rate of hereditary thrombophilia patients. However, further studies with larger sample sizes are required to shed light on the exact role of the studied gene polymorphism, especially rs1800790 G > A of FGB gene variant in pathogenesis of RPL.

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Study on clinical and genetic characteristics of male patients with non-obstructive azoospermia

Tạp chí Nghiên cứu Y học ◽

10.52852/tcncyh.v141i5.211 ◽

2021 ◽

Vol 141 (5) ◽

pp. 39-45

Author(s):

Nguyen Hoai Bac ◽

Hoang Long

Keyword(s):

Sex Chromosome ◽

Chromosomal Abnormalities ◽

Klinefelter Syndrome ◽

Obstructive Azoospermia ◽

Genetic Characteristics ◽

Azfc Deletion ◽

Genetic Abnormalities ◽

History Of ◽

Male Patients ◽

Infertile Patients

We examined 501 patients with non - obstructive azoospermia to evaluate clinical, subclinical, and genetic characteristics. The results show that the average age of patients in the study was 29.8 ± 5.5 years. Primary infertility accounts for the majority, with a rate of 90.3%. There was 38.6% of patients had a history of mumps orchitis. The average levels of FSH, LH, testosterone were 31.6 ± 16.5 mIU/mL, 15.5 ± 10 mIU/mL and 12.8 ± 7.13 nmol/L, respectively. The prevalence of chromosomal abnormalities was 30.7%. Of these, the sex chromosome aneuploidy with 47,XXY karyotype (Klinefelter syndrome) accounted for 27.3%. The incidence of AZF microdeletion was 13.8%. Of these, AZFc deletion was the most common at the rate of 42.1%, AZFa deletion, which accounted for 2.6%, were the least prevalent, and the frequency of AZFd deletion was 5.3%. However, there was no solitary AZFb deletion, which combined with other AZF deletions with 34.2%. Our research shows that mumps orchitis and chromosomal abnormalities are the leading causes of azoospermia. Screening for genetic abnormalities plays an important role in infertile patients with non - obstructive azoospermia.

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Childhood trauma and being at-risk for psychosis are associated with higher peripheral endocannabinoids

Psychological Medicine ◽

10.1017/s0033291719001946 ◽

2019 ◽

Vol 50 (11) ◽

pp. 1862-1871 ◽

Cited By ~ 2

Author(s):

E. Appiah-Kusi ◽

R. Wilson ◽

M. Colizzi ◽

E. Foglia ◽

E. Klamerus ◽

...

Keyword(s):

Risk Factors ◽

At Risk ◽

Childhood Trauma ◽

Childhood Maltreatment ◽

Peripheral Blood ◽

Endocannabinoid System ◽

History Of Childhood ◽

Increased Risk ◽

History Of

AbstractBackgroundEvidence has been accumulating regarding alterations in components of the endocannabinoid system in patients with psychosis. Of all the putative risk factors associated with psychosis, being at clinical high-risk for psychosis (CHR) has the strongest association with the onset of psychosis, and exposure to childhood trauma has been linked to an increased risk of development of psychotic disorder. We aimed to investigate whether being at-risk for psychosis and exposure to childhood trauma were associated with altered endocannabinoid levels.MethodWe compared 33 CHR participants with 58 healthy controls (HC) and collected information about previous exposure to childhood trauma as well as plasma samples to analyse endocannabinoid levels.ResultsIndividuals with both CHR and experience of childhood trauma had higher N-palmitoylethanolamine (p < 0.001) and anandamide (p < 0.001) levels in peripheral blood compared to HC and those with no childhood trauma. There was also a significant correlation between N-palmitoylethanolamine levels and symptoms as well as childhood trauma.ConclusionsOur results suggest an association between CHR and/or childhood maltreatment and elevated endocannabinoid levels in peripheral blood, with a greater alteration in those with both CHR status and history of childhood maltreatment compared to those with either of those risks alone. Furthermore, endocannabinoid levels increased linearly with the number of risk factors and elevated endocannabinoid levels correlated with the severity of CHR symptoms and extent of childhood maltreatment. Further studies in larger cohorts, employing longitudinal designs are needed to confirm these findings and delineate the precise role of endocannabinoid alterations in the pathophysiology of psychosis.

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Duplication 6q24: More Than Just Diabetes

Journal of the Endocrine Society ◽

10.1210/jendso/bvaa027 ◽

2020 ◽

Vol 4 (5) ◽

Author(s):

Rachel H Gore ◽

Maria Eleni Nikita ◽

Paula G Newton ◽

Rebecca G Carter ◽

Jeanine Reyes-Bautista ◽

...

Keyword(s):

Chromosomal Abnormalities ◽

Uniparental Disomy ◽

Clinical Importance ◽

Neonatal Diabetes ◽

Increased Risk ◽

Chromosome 6Q24 ◽

History Of ◽

Transient Neonatal Diabetes ◽

Neonatal Hyperglycemia ◽

Methylation Patterns

Abstract Chromosome 6q24-related transient neonatal diabetes mellitus is characterized by intrauterine growth restriction and low birth weight, with neonatal hyperglycemia resolving by 18 months and an increased risk for type 2 diabetes in adulthood. Molecularly, it is caused by overexpression of the 6q24 imprinted chromosomal region due to a duplication, uniparental disomy, or abnormal methylation. Conventional testing for this condition analyzes methylation patterns at the 6q24 locus but does not evaluate for the presence of other surrounding chromosomal abnormalities. We report a female with a history of neonatal hyperglycemia due to a paternally inherited duplication at chromosomal location 6q24. She subsequently presented to the pediatric genetics clinic at 15 months of age with developmental delay and abnormal balance. Microarray analysis identified a larger 14 Mb chromosomal duplication from 6q24 to 6q25.2, consistent with a diagnosis of duplication 6q syndrome. This case highlights the clinical importance of pursuing further genetic evaluation in patients diagnosed with chromosome 6q24-related neonatal hyperglycemia via targeted methylation-specific multiplex ligation-dependent probe amplification analysis identifying a duplication in this region. Early identification and intervention can improve developmental outcomes for patients with larger chromosome 6q duplications.

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Chromosomal abnormalities and atrial fibrillation and ischemic stroke incidence: a nationwide population-based study

Scientific Reports ◽

10.1038/s41598-020-72678-0 ◽

2020 ◽

Vol 10 (1) ◽

Author(s):

Jun Hwan Cho ◽

Eue-Keun Choi ◽

In-Ki Moon ◽

Jin- Hyung Jung ◽

Kyung-Do Han ◽

...

Keyword(s):

Atrial Fibrillation ◽

Down Syndrome ◽

Ischemic Stroke ◽

Turner Syndrome ◽

Chromosomal Abnormalities ◽

Klinefelter Syndrome ◽

Control Group ◽

Stroke Incidence ◽

Cox Regression Analysis ◽

Increased Risk

Abstract There is a paucity of information as to whether chromosomal abnormalities, including Down Syndrome, Turner Syndrome, and Klinefelter Syndrome, have an association with atrial fibrillation (AF) and ischemic stroke development. Data from 3660 patients with Down Syndrome, 2408 with Turner Syndrome, and 851 with Klinefelter Syndrome without a history of AF and ischemic stroke were collected from the Korean National Health Insurance Service (2007–2014). These patients were followed-up for new-onset AF and ischemic stroke. Age- and sex-matched control subjects (at a ratio of 1:10) were selected and compared with the patients with chromosomal abnormalities. Down Syndrome patients showed a higher incidence of AF and ischemic stroke than controls. Turner Syndrome and Klinefelter Syndrome patients showed a higher incidence of AF than did the control group, but not of stroke. Multivariate Cox regression analysis revealed that three chromosomal abnormalities were independent risk factors for AF, and Down Syndrome was independently associated with the risk of stroke. In conclusion, Down Syndrome, Turner Syndrome, and Klinefelter Syndrome showed an increased risk of AF. Down Syndrome patients only showed an increased risk of stroke. Therefore, AF surveillance and active stroke prevention would be beneficial in patients with these chromosomal abnormalities.

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The Role of Trauma in Alcoholism Risk and Age of Alcoholism Onset

10.31234/osf.io/u3hg9 ◽

2017 ◽

Author(s):

Colleen Molloy Farrelly

Keyword(s):

Age Of Onset ◽

Survival Models ◽

Social Risk ◽

Social Risk Factors ◽

Increased Risk ◽

Random Survival Forests ◽

History Of ◽

Alcoholism Risk ◽

Survival Forests

Trauma is an important predictor of alcoholism risk, as well as age of onset; those experiencing more types of trauma tend to be at increased risk. In addition, paternal and maternal history of alcoholism is highly related to alcoholism risk, and paternal history remains significant after controlling for trauma. Limitations of these findings include univariate testing, and follow-ups with more sophisticated age-to-onset models, such as random survival forests and boosted survival models, should be done to understand the interactions of trauma and other genetic and social risk factors to better understand the etiology of alcoholism.

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Gout prevalence in the Hmong: a prime example of health disparity and the role of community-based genetic research

Personalized Medicine ◽

10.2217/pme-2020-0107 ◽

2021 ◽

Author(s):

Youssef M Roman ◽

Kajua Lor ◽

Txia Xiong ◽

Kathleen Culhane-Pera ◽

Robert J Straka

Keyword(s):

Health Disparity ◽

Genetic Research ◽

The United States ◽

Health Conditions ◽

Community Based ◽

Traditional Medicines ◽

Increased Risk ◽

Genomic Studies ◽

History Of

Individuals of distinct Asian backgrounds are commonly aggregated as Asian, which could mask the differences in the etiology and prevalence of health conditions in the different Asian subgroups. The Hmong are a growing Asian subgroup in the United States with a higher prevalence of gout and gout-related comorbidities than non-Hmong. Genetic explorations in the Hmong suggest a higher prevalence of genetic polymorphisms associated with an increased risk of hyperuricemia and gout. History of immigration, acculturation, lifestyle factors, including dietary and social behavioral patterns, and the use of traditional medicines in the Hmong community may also increase the risk of developing gout and lead to poor gout management outcomes. Engaging minorities such as the Hmong population in biomedical research is a needed step to reduce the burden of health disparities within their respective communities, increase diversity in genomic studies, and accelerate the adoption of precision medicine to clinical practice.

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