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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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38 hot topic(s) found with the query "Infertility"

Toward clinical exomes in diagnostics and management of male infertility
C Lillepea et al, AJHG, April 15, 2024 (Posted: Apr 15, 2024 2PM)

From the abstract: "Infertility, affecting ~10% of men, is predominantly caused by primary spermatogenic failure (SPGF). We screened likely pathogenic and pathogenic (LP/P) variants in 638 candidate genes for male infertility in 521 individuals presenting idiopathic SPGF and 323 normozoospermic men in the ESTAND cohort. Molecular diagnosis was reached for 64 men with SPGF (12%), with findings in 39 genes (6%). The yield did not differ significantly between the subgroups with azoospermia (20/185, 11%), oligozoospermia (18/181, 10%), and primary cryptorchidism with SPGF (26/155, 17%). "

Understanding the genetics of human infertility.
Qing Sang et al. Science 2023 4 (6641) 158-163 (Posted: Apr 17, 2023 7AM)

We review various aspects of human infertility, including etiology, mechanisms, and treatments, with a particular emphasis on genetics. We focus on gamete production and gamete quality, which is the core of successful reproduction. We also discuss future research opportunities and challenges to further expand our understanding of human infertility and improve patient care by providing precision diagnosis and personalized treatments.

Landscape of pathogenic mutations in premature ovarian insufficiency.
Hanni Ke et al. Nature medicine 2023 2 (Posted: Feb 04, 2023 7AM)

Premature ovarian insufficiency (POI) is a major cause of female infertility due to early loss of ovarian function. POI is a heterogeneous condition, and its molecular etiology is unclear. To identify genetic variants associated with POI, here we performed whole-exome sequencing in a cohort of 1,030 patients with POI. We detected 195 pathogenic/likely pathogenic variants in 59 known POI-causative genes, accounting for 193 (18.7%) cases.

Declining Male Sperm Count Is at a Global Crisis Level
Medscape, January 30, 2023 (Posted: Jan 30, 2023 9AM)

A meta-analysis of sperm count in men on six continents shows an alarming decline that continues to accelerate, according to an international team of researchers. Overall, there is a significant worldwide decline in sperm counts of more than 50% in the past 46 years, a decline that has accelerated in recent years. Sperm count declines among men from South and Central America, Asia, Africa, North America, Europe, and Australia have accelerated in the last 5 years.

Development of a Model to Estimate the Optimal Number of Oocytes to Attempt to Fertilize During Assisted Reproductive Technology Treatment.
Correia Katharine F B et al. JAMA network open 2023 1 (1) e2249395 (Posted: Jan 04, 2023 6AM)

In this national registry–based diagnostic study, in 66.2% of cycles among patients younger than 38 years, fewer than all retrieved oocytes could be exposed to sperm to minimize the number of unused embryos while optimizing the probability of a live birth. These findings suggest the developed prediction tool could reduce the number of unused embryos created and immediately address current patient and clinician concerns.

Diverse monogenic subforms of human spermatogenic failure
L Nagirnaja et al, Nat Comms, December 26, 2022 (Posted: Dec 27, 2022 0PM)

In this study, we exome-sequenced over 1000 clinically diagnosed NOA cases and identified a plausible recessive Mendelian cause in 20%. We find further support for 21 genes in a 2-stage burden test with 2072 cases and 11,587 fertile controls. The disrupted genes are primarily on the autosomes, enriched for undescribed human “knockouts”, and, for the most part, have yet to be linked to a Mendelian trait.

Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.
Riera-Escamilla Antoni et al. American journal of human genetics 2022 7 (Posted: Jul 10, 2022 2PM)

We aimed to provide a comprehensive analysis of all X chromosome-linked protein-coding genes in 2,354 azoospermic/cryptozoospermic men from four independent cohorts. Genomic data were analyzed and compared with data in normozoospermic control individuals and gnomAD. While updating the clinical significance of known genes, we propose 21 recurrently mutated genes strongly associated with and 34 moderately associated with azoospermia/cryptozoospermia not previously linked to male infertility (novel). The most frequently affected prioritized gene, RBBP7, was found mutated in ten men across all cohorts

Widespread Misinformation About Infertility Continues to Create COVID-19 Vaccine Hesitancy
J Abbasi, JAMA, February 22, 2022 (Posted: Feb 23, 2022 8AM)

“Misinformation about COVID-19 vaccines impacting fertility has been one of the most persistent myths during this pandemic,” US Surgeon General Vivek Murthy, MD, MBA, told JAMA in an emailed statement. “Wide-spread misinformation has unfortunately led many people not to get vaccinated,” Murthy said, “and it has led to alarmingly low rates of vaccination amongst pregnant people, who are actually at greater risk of adverse outcomes with COVID-19 compared with people who are not pregnant.”

Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.
Kherraf Zine-Eddine et al. American journal of human genetics 2022 2 (Posted: Feb 17, 2022 11AM)

Exome sequencing was performed on 96 NOA-affected individuals negative for routine genetic tests. Bioinformatics analysis was limited to a panel of 151 genes selected as known causal or candidate genes for NOA. Only highly deleterious homozygous or hemizygous variants were retained as candidates. A likely causal defect was identified in 16 genes in a total of 22 individuals (23%).

Variant PNLDC1, Defective piRNA Processing, and Azoospermia.
Nagirnaja Liina et al. The New England journal of medicine 2021 8 (Posted: Aug 05, 2021 11AM)

We performed exome sequencing on DNA samples from 924 men who had received a diagnosis of nonobstructive azoospermia. Testicular-biopsy samples were analyzed by means of histologic and immunohistochemical tests, in situ hybridization, reverse-transcriptase–quantitative-polymerase-chain-reaction assay, and small-RNA sequencing.

Understanding Pregnancy Loss, Infertility, Birth Defects and the MTHFR gene: What Everyone Should Know
J Gunter, the Vajenda, March 27, 2021 (Posted: Mar 29, 2021 6AM)

Many people have erroneously linked MTHFR polymorphisms with a myriad of medical conditions. In the world of reproductive medicine, it is blamed for a host of things, such as infertility, miscarriages, stillbirths, failure of in vitro fertilization (IVF), preecplampsia (a serious medical condition during pregnancy), and having a child with autism, Down syndrome, birth defects that impact the heart (congenital heart disease), and neural tube defects.

A genomics approach to male infertility
N Alhathal et al, Genetics in Medicine, July 28, 2020 (Posted: Jul 28, 2020 10AM)

Patients with severe oligospermia and nonobstructive azoospermia were investigated using exome sequencing (ES) in parallel with the standard practice of chromosomal analysis. In 285 patients, 10.5% (n?=?30) had evidence of chromosomal aberrations while nearly a quarter (n?=?69; 24.2%) had a potential monogenic form of male infertility.

Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality
R Dawes et al, NPJ Genomic Medicine, April 15, 2019 (Posted: Apr 29, 2019 11AM)

A systematic review and standardized clinical validity assessment of male infertility genes
MS Oud et al, BioRXIV, September 2018 (Posted: Sep 25, 2018 9AM)

Infertility FAQs
CDC, 2018 Brand (Posted: Apr 24, 2018 11AM)

Testing for genetic contributions to infertility: potential clinical impact.
Krausz C et al. Expert review of molecular diagnostics 2018 Mar (Posted: Mar 21, 2018 4PM)

Initiative for standardization of reporting genetics of male infertility.
Traven Eva et al. Systems biology in reproductive medicine 2017 Feb (1) 58-66 (Posted: Jun 06, 2017 8AM)

Multi-omics and male infertility: status, integration and future prospects.
Sinha Ashima et al. Frontiers in bioscience (Scholar edition) 2017 Jun 375-394 (Posted: Jun 06, 2017 8AM)

Genomics: Tool to predict and prevent male infertility.
Halder Ashutosh et al. Frontiers in bioscience (Scholar edition) 2017 Jun 448-508 (Posted: Jun 06, 2017 8AM)

Physiological Aspects of Female Fertility: Role of the Environment, Modern Lifestyle, and Genetics.
Hart Roger J et al. Physiological reviews 2016 Jul (3) 873-909 (Posted: Aug 21, 2016 2PM)

Genetics of Male Infertility.
Neto Filipe Tenorio Lira et al. Current urology reports 2016 Oct (10) 70 (Posted: Aug 21, 2016 2PM)

The First Tinkering with Human Heredity May Happen in the Infertility Clinic
SS Hall, Scientific American, September 2016 (Posted: Aug 21, 2016 2PM)

Pros and cons of implementing a carrier genetic test in an infertility practice.
Gil-Arribas Elisa et al. Current opinion in obstetrics & gynecology 2016 Apr (Posted: Apr 13, 2016 11AM)

Genetics of male infertility: from research to clinic.
Krausz Csilla et al. Reproduction (Cambridge, England) 2015 Nov (5) R159-74 (Posted: Mar 03, 2016 0PM)

Epigenetics and male reproduction: the consequences of paternal lifestyle on fertility, embryo development, and children lifetime health.
Stuppia Liborio et al. Clinical epigenetics 2015 120 (Posted: Mar 03, 2016 0PM)

The "omics" of human male infertility: integrating big data in a systems biology approach.
Carrell D T et al. Cell and tissue research 2016 Jan (1) 295-312 (Posted: Mar 03, 2016 11AM)

Expanded carrier screening in an infertile population: how often is clinical decision making affected?
JM Franasiak et al, Genetics in Medicine, March 3, 2016 (Posted: Mar 03, 2016 11AM)

Polymorphisms in inhibin a gene promoter associated with male infertility.
Li Wan-Hong et al. Gene 2015 Apr 1. (2) 172-6 (Posted: Apr 19, 2015 2PM)

Excess of Rare Variants in Genes that are Key Epigenetic Regulators of Spermatogenesis in the Patients with Non-Obstructive Azoospermia.
Li Zesong et al. Sci Rep 2015 8785 (Posted: Apr 19, 2015 2PM)

Cost-effectiveness analysis of preimplantation genetic screening and in vitro fertilization versus expectant management in patients with unexplained recurrent pregnancy loss.
Murugappan Gayathree et al. Fertil. Steril. 2015 Mar 12. (Posted: Apr 19, 2015 2PM)

Susceptibility to male infertility: replication study in Japanese men looking for an association with four GWAS-derived loci identified in European men.
Chihara Makoto et al. J. Assist. Reprod. Genet. 2015 Apr 7. (Posted: Apr 19, 2015 2PM)

Mutation analysis in patients with total sperm immotility.
Pereira Rute et al. J. Assist. Reprod. Genet. 2015 Apr 16. (Posted: Apr 19, 2015 2PM)

Infertility etiologies are genetically and clinically linked with other diseases in single meta-diseases.
Tarín Juan J et al. Reprod. Biol. Endocrinol. 2015 Apr 15. (1) 31 (Posted: Apr 19, 2015 2PM)

Infertility frequently asked questions
Brand (Posted: Feb 25, 2015 0PM)

Cystic Fibrosis
From NHLBI health topic site Brand (Posted: Jan 01, 2014 0AM)

What Is Cystic fibrosis (SIS-tik fi-BRO-sis), or CF, is an inherited disease of the secretory (see-KREH-tor-ee) glands. Secretory glands include glands that make mucus and sweat. "Inherited" means the disease is passed from parents to children through genes. People who have CF inherit two faulty genes for the disease?one from each parent. The parents likely don't have the disease themselves. CF mainly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs. Overview Mucus is a substance made by tissues that line some organs and body cavities, such as the lungs and nose. Normally, mucus is a slippery, watery substance. It keeps the linings of certain organs moist and prevents them from drying out or getting infected. If you have CF, your mucus becomes thick and sticky. It builds up in your lungs and blocks your airways. (Airways are tubes that carry air in and out of your lungs.) The buildup of mucus makes it easy for bacteria to grow. This leads to repeated, serious lung infections. Over time, these infections can severely damage your lungs. The thick, sticky mucus also can block tubes, or ducts, in your pancreas (an organ in your abdomen). As a result, the digestive enzymes that your pancreas makes can't reach your small intestine. These enzymes help break down food. Without them, your intestines can't fully absorb fats and proteins. This can cause vitamin deficiency and malnutrition because nutrients pass through your body without being used. You also may have bulky stools, intestinal gas, a swollen belly from severe constipation, and pain or discomfort. CF also causes your sweat to become very salty. Thus, when you sweat, you lose large amounts of salt. This can upset the balance of minerals in your blood and cause many health problems. Examples of these problems include dehydration (a lack of fluid in your body), increased heart rate, fatigue (tiredness), weakness, decreased blood pressure, heat stroke, and, rarely, death. If you or your child has CF, you're also at higher risk for diabetes or two bone-thinning conditions called osteoporosis (OS-te-o-po-RO-sis) and osteopenia (OS-te-o-PEE-nee-uh). CF also causes infertility in men, and the disease can make it harder for women to get pregnant. (The term "infertility" refers to the inability to have children.) Outlook The symptoms and severity of CF vary. If you or your child has the disease, you may have serious lung and digestive problems. If the disease is mild, symptoms may not show up until the teen or adult years. The symptoms and severity of CF also vary over time. Sometimes you'll have few symptoms. Other times, your symptoms may become more severe. As the disease gets worse, you'll have more severe symptoms more often. Lung function often starts to decline in early childhood in people who have CF. Over time, damage to the lungs can cause severe breathing problems. Respiratory failure is the most common cause of death in people who have CF. As treatments for CF continue to improve, so does life expectancy for those who have the disease. Today, some people who have CF are living into their forties or fifties, or longer. Early treatment for CF can improve your quality of life and increase your lifespan. Treatments may include nutritional and respiratory therapies, medicines, exercise, and other treatments. Your doctor also may recommend pulmonary rehabilitation (PR). PR is a broad program that helps improve the well-being of people who have chronic (ongoing) breathing problems. Other Names ?Cystic fibrosis of the pancreas ?Fibrocystic disease of the pancreas ?Mucoviscidosis (MU-ko-vis-ih-DO-sis) ?Mucoviscidosis of the pancreas ?Pancreas fibrocystic disease ?Pancreatic cystic fibrosis

Y chromosome infertility
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness-infertility syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Male infertility with spermatogenesis disorder due to single gene mutation
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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