← all papers · genetics (58) Science journalism, not medical advice.
- Gene Defect Leaves Sperm Trapped in Cytoplasm2026-07-15
A single gene defect leaves mouse and human sperm wrapped in leftover cytoplasm, misshapen, and infertile
SPEM2 deficiency disrupts spermiation leading to oligoasthenoteratozoospermia and male infertility male infertility genetics spermatogenesis animal study semen quality
- High Blood Pressure Causes ED, Study Claims2026-06-26
Genetic data links hypertension to erectile dysfunction, but the paper never states the actual effect size
Bibliometric and Two-Sample Mendelian Randomization Analyses of the Causal Relationship Between Hypertension and Erectile Dysfunction hypertension erectile dysfunction bibliometrics genetics
- Lifelong Male Infertility Diagnosis Reverses in 1-in-102026-06-25
~10–15% of men with congenital hypogonadotropic hypogonadism spontaneously recover testosterone and fertility after stopping treatment
Reversible Congenital Hypogonadotropic Hypogonadism: Keys for Clinical Management hypogonadism male infertility genetics narrative review
- Could a Blood Test Replace Testicular Biopsy?2026-06-15
A 2026 narrative review maps the landscape of non-invasive biomarkers for azoospermia diagnosis, covering small RNAs, proteomics, genetic markers, and imaging
Research Progress on the Pathogenesis and Diagnostic Biomarkers of Azoospermia male infertility biomarkers genetics genomics spermatogenesis narrative review
- Early Sex Linked to ED Risk—But Just Barely2026-06-12
Genetic proxies for later first sex associated with ~37% lower ED odds in mixed-sex cohorts; male-only results lose significance once confounders are stripped out.
Bayesian Mendelian Randomization Reveals a Protective Effect of Later Age at First Sexual Intercourse Against Erectile Dysfunction erectile dysfunction genetics epidemiology sexual dysfunction
- The Gene That Kills Erections in Hypertensive Rats2026-06-05
In hypertensive rats, Ephx2 overexpression in penile endothelium suppresses the AKT/eNOS pathway; silencing it or giving icariin restored measurable erectile function
Suppression of Ephx2 in Endothelial Cells of Penile Cavernous Tissue Improves SHR Erectile Function animal study erectile dysfunction hypertension vascular health traditional chinese medicine genetics
- Two Men Failed IVF Until Doctors Checked Their DNA2026-06
Two novel PLCZ1 frameshift mutations caused near-total IVF failure; adding assisted oocyte activation pushed fertilization rates to 73–80%
Clinical Features and PLCZ1 Gene Variants in Two Cases of Male Infertility: A Case Series and Literature Review genetics genomics male infertility case report
- Brain Immune Cells Gatekeep Fertility Hormones2026-05-21
Brain immune cells (microglia) use RANK signaling to control GnRH neurons — and rare RANK variants show up in 564 hypogonadism patients
Microglia Rank Signaling Regulates GnRH Neuronal Function and the Hypothalamic-Pituitary-Gonadal Axis hypogonadism infertility genetics animal study
- New Gene Found Behind Structurally Broken Sperm2026-05-19
Knockout mice lacking DNAI4 are completely infertile with shattered sperm flagella, pointing to a candidate gene for the ~40% of human MMAF cases still unexplained.
DNAI4 is Required for Flagellum Assembly and Male Fertility in Mice animal study male infertility genetics spermatogenesis
- One Y Chromosome Deletion Beats Two for Sperm Retrieval2026-05-07
AZFc deletions yield sperm retrieval in 58.85% of azoospermic men; complete AZFa/b deletions are essentially futile for TESE.
Y Chromosome and Male Fertility: The AZF Genes and Their Deletion genetics male infertility spermatogenesis genomics
- Testicular Cancer Gets Its First Moderate-Risk Gene2026-05-06
CHEK2 becomes the first moderate-penetrance predisposition gene identified for testicular germ cell tumors, alongside growing ties to inherited cancer syndromes
Recent Advances in Genetic Predisposition to Primary Testicular Tumors testicular cancer genetics genomics narrative review
- Your Genes, Not Your Diet, May Drive Low Phosphate2026-04-30
Narrative review argues that low phosphate in stone formers is driven by genetic defects in kidney transporters, not diet—and that supplementation may cut recurrence.
Hypophosphatemia in Kidney Stone Formers kidney stones genetics narrative review biomarkers
- One Gene Variant Ties Infertility, Ataxia, and Brain Cell Death2026-04-22
RNF216 loss-of-function variants kill cells via runaway autophagy — found in 2 of 1,476 HH patients
RNF216 Variants Found in Patients With Dementia, Hypogonadotropic Hypogonadism, and Severe Ataxia Deregulate Autophagy genetics hypogonadism neurodegenerative diseases autophagy
- Genetic Cause Found in Only 1 in 4 Female IHH Cases2026-04-18
Only 4 of 17 sequenced female IHH patients (23.5%) had an identifiable pathogenic variant; the majority remain genetically undiagnosed
Genetic variants analysis of 17 female patients with idiopathic hypogonadotropic hypogonadism genetics genomics hypogonadism women's health infertility
- Genetics Breaks the Prostatitis-ED Link2026-04-17
Genetic analysis of FinnGen data found no causal link between prostatitis and ED in either direction (OR=1.132, P=.199)
No Causal Effect Between Prostatitis and Erectile Dysfunction: Insights from a 2-Sample Bidirectional Mendelian Randomization Study erectile dysfunction genetics inflammation genomics
- The Gene That Breaks Sperm—But Not Eggs2026-04-15
Mice lacking the RNA-binding protein LARP1 produce sperm with defective flagella, malformed heads, and poor motility — females are unaffected
Deficiency of LARP1 Impairs Spermatogenesis and Leads to Male Subfertility in Mice animal study male infertility spermatogenesis genetics
- A 12-Fold ED Risk Gap Hidden in Your DNA2026-04-11
A deep learning model trained on 810 genetic variants predicted post-radiation ED with AUC 0.75 and an 11.8-fold odds gap between risk groups.
Deep Learning on Genome-Wide Association Studies to Predict the Patient-Specific Risk of Radiation-Induced Erectile Dysfunction artificial intelligence erectile dysfunction genetics genomics prostate cancer
- New Drug Saves Mice From Fatal Kidney Disease2026-03-20
In mice bred to die of kidney failure by 15 weeks, a daily pill restored normal survival and stopped stone formation entirely
N-propargylglycine restores survival by preventing calcium oxalate stone formation, tubular injury, and kidney dysfunction in a lethal mouse model of primary hyperoxaluria type 2 kidney stones animal study genetics chronic kidney disease
- One Gene Deletion Kills All Sperm Maturation in Mice2026-03-20
Knocking out a single gene in mice triggers complete male infertility by blocking the histone-to-protamine swap that compacts sperm DNA
PRAMEL12 orchestrates spermiogenesis to ensure male fertility in mice animal study male infertility spermatogenesis genetics epigenetics
- The Testicular Tumor Hiding Behind Wrong Diagnoses2026-03-19
A review of an ultra-rare testicular malignancy, defined by EWSR1::ATF1 gene fusions, that has been routinely misclassified as other tumor types
Inflammatory and Nested Testicular Sex Cord Tumors: Clinical and Molecular Characterization testicular cancer genetics pathology biomarkers
- FSH, Not Just Testosterone, May Drive Muscle Loss2026-03-17
Men with Klinefelter syndrome had significantly less lean mass than Kallmann men (ALMI 7.28 vs 8.37 kg/m²), implicating FSH
Body Composition by DXA in Patients with Klinefelter and Kallmann Syndrome: The Kama Study hypogonadism testosterone therapy genetics biomarkers
- Most CHH Cases Have No Single Gene to Blame2026-03-17
In 88 Japanese CHH patients, only 39% had a confirmed pathogenic variant; the rest showed hallmarks of multi-gene inheritance
Comprehensive Molecular Studies in 88 Japanese Patients With Congenital Hypogonadotropic Hypogonadism genetics hypogonadism male infertility genomics
- AI Will Fix Male Infertility (Trust Us)2026-03-16
A solo computer scientist argues LLMs could transform male infertility research — with zero data to show for it
Future directions in infertility research: the role of generative AI and large language models. male infertility infertility genetics epigenetics
- The Cilia Gene Running the Sperm Factory2026-03-15
Knocking out a cilia gene in fish collapses the testicular niche — sperm motility fails and Sertoli cells die off before sperm do
NPHP4 Deficiency Disrupts Testicular Homeostasis and Impairs Male Fertility in Medaka (*Oryzias latipes*) animal study male infertility spermatogenesis genetics
- Planet-Friendly Diet Cuts Kidney Stone Risk 19%2026-03-14
Eating closer to the EAT-Lancet planetary health diet linked to 19% lower kidney stone incidence; genetics barely changed the math
Adherence to the EAT-Lancet Diet, Genetic Predisposition, and Risk of Kidney Stone Disease kidney stones cohort study genetics obesity
- Sperm-Only Ion Channels Could Enable Male Contraception2026-03-12
A review of the ion transport machinery in sperm membranes — some of it unique to sperm — and why mutations in these systems cause infertility
The systems that transport ions and their impact on sperm function and male fertility. male infertility sperm capacitation genetics contraception narrative review
- Kidney Stone Genes: Who Actually Needs Testing?2026-03-12
Review finds genetic testing pays off in high-risk cases, but polygenic risk scores remain unproven for most patients
Genetic Testing and Personalized Treatment for Kidney Stone Formers kidney stones genetics genomics evidence quality
- Poor Sperm, Worse Health: The Iceberg Below2026-03-06
Review argues 1–6% of infertile men have undetected life-threatening pathology, yet workup stops at semen analysis
Is Male Infertility an Early Warning of More Serious Diseases? male infertility genetics semen quality biomarkers
- Lab-Grown Sperm: Closer, But Not There2026-03-01
Narrative review maps iPSC-to-sperm progress — validated precursor cells exist, but maturation to functional sperm remains unsolved
The road to restore male fertility using in vitro-derived germ cells male infertility infertility genetics stem cells
- Mom's Diet Shapes Her Son's Sperm, in Cattle2026-03
Genetics explains only ~15% of male infertility; a cattle review argues epigenetic marks fill the gap — and pass across generations
Bull Fertility and Epigenetics: Exploring Influences Beyond Genetics animal study male infertility genetics epigenetics biomarkers
- One Gene Knockout Tanks Sperm Count in Mice2026-02-28
Germ-cell deletion of TNXB in mice causes testicular atrophy, tubular degeneration, and near-total loss of spermatogenesis
TNXB Regulates Spermatogenesis by Maintaining Cytoskeleton and Cell Junction Stability male infertility genetics animal study semen quality
- Half of Klinefelter Men Have Fatty Liver2026-02-20
Nearly half of Klinefelter patients had fatty liver, driven by metabolic syndrome — not low testosterone
Metabolic Dysfunction-associated Steatotic Liver Disease in Klinefelter Syndrome: High Prevalence Uncovers an Unmet Need hypogonadism genetics cardiovascular disease metabolic syndrome
- Does Iron Boost Testosterone? Barely2026-02-20
Serum iron associates with testosterone in middle-aged men — but the causal story is murkier than the headline suggests
Serum Minerals and Male Age-related Hypogonadism: Multimodal Evidence Decoding Associations and Intervention Strategies iron metabolism biomarkers genetics hypogonadism
- Gene Variant Predicted Zero Sperm in Every Case2026-02-18
Biallelic MEI1 mutations found in 1.9% of azoospermic men; surgical sperm retrieval failed 12/12 times
A common cause of non-obstructive azoospermia: biallelic MEI1 variants and implications for infertility diagnostics. genetics genomics male infertility spermatogenesis
- CBAVD Sperm Retrieval: No One Agrees2026-02-18
Among 51 reproductive urologists, no extraction technique dominated: testicular (39%), epididymal (29%), or a combination (31%)
Reproductive Urologist Preferences for Sperm Extraction in Congenital Bilateral Absence of the Vas Deferens male infertility health services surgical outcomes genetics
- The Cleanup Crew Sperm Can't Live Without2026-02-13
Review surveys mouse knockout evidence linking ubiquitin-editing enzymes to spermatogenic failure; no human clinical data
The Potential Role of Deubiquitinating Enzymes (DUBs) in Male Fertility male infertility genetics animal study spermatogenesis
- Can a Blood Draw Replace Testicular Cancer Imaging?2026-02-11
Rising TGCT incidence, murky risk factors, and two emerging biomarkers — a military urology team surveys the field
Decoding testicular germ cell tumors: integrating risk, biology, and biomarkers into future care testicular cancer biomarkers genetics
- Same DNA Repair Flaw, Infertile Men and Women2026-02-05
Exome sequencing of three consanguineous families found homozygous loss-of-function variants in SPIDR, TOP6BL, or RAD51AP2 — all meiotic DNA repair genes — causing infertility in both sexes.
Disruption of Meiotic Double-Strand Break Dynamics Provokes Germline Human Infertility in Both Sexes genetics male infertility infertility spermatogenesis
- Single-Cell Map Reveals Penile Cancer's Immune Blind Spots2026-02-04
A 66,421-cell atlas of penile squamous cell carcinoma identifies SEMA3C-high tumor cells and exhausted T cells as key drivers of metastasis
Decoding the Cellular Heterogeneity and Malignant Progression of Human Penile Squamous Cell Carcinoma by Single-Cell RNA Sequencing penile cancer biomarkers immunology genetics
- One in Four "Causative" IHH Variants: Actually Benign2026-01-30
When re-scored by ACMG standards, 26% of reported "causative" IHH/Kallmann variants were benign — and ClinVar confirmed only 18% as pathogenic
Overestimation of Pathogenic Variants in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome genetics genomics hypogonadism evidence quality
- X-Linked Gene Found in Sperm Failure, Monkeys Confirm It2026-01-27
A primate-exclusive X-linked gene, TFDP3, was defective in 8 infertile men with OAT — and silencing it in monkeys replicated the phenotype
Deficiency of Primate-Specific TFDP3 Causes Male Infertility with Oligoasthenoteratozoospermia in Humans and Cynomolgus Monkeys genetics male infertility spermatogenesis animal study
- Gene Variant Floods Sperm With Chromosome Errors2026-01-25
A single inherited frameshift variant left 18.8% of one man's sperm missing sex chromosomes entirely — and drove repeated miscarriages
Homozygous C12orf40 Variant Contributes to Severe Oligoasthenoteratozoospermia and Sperm Sex Chromosome Aneuploidy genetics male infertility spermatogenesis case report pregnancy
- 55 Men, OR of 21 — Color Me Skeptical2026-01-07
An enzyme involved in oxidative stress showed lower activity in infertile men — in a study of 55 total subjects
Enzymatic and Genetic Evaluation of Butyrylcholinesterase in Male Infertility male infertility genetics oxidative stress biomarkers case-control study
- Genetic Testing Solves Only 1 in 13 Infertility Cases2026-01-03
India's largest male infertility genomics cohort found a genetic cause in just 7.7% of 247 men with severe sperm defects
Genetic Diversity of Infertile Males in India genetics male infertility spermatogenesis infertility
- Blood Type O and Infertility: Weak Signal, Big Caveats2025-12-19
Blood type O was overrepresented in infertile couples (39.5% vs 34.2%), but effect sizes were weak and key findings didn't survive correction
ABO Blood Group Distribution and Infertility Risk in Southern China: A Retrospective Analysis of the Ganzhou Region male infertility infertility genetics semen quality
- Rare Ovarian Tumor: DICER1 in Every Case2025-12-15
In 11 cases of this exceptionally rare ovarian tumor type, 100% harbored DICER1 mutations and 86% carried double mutations, pointing to DICER1 as the primary driver.
Ovarian Sertoli-Leydig Cell Tumors with Heterologous Rhabdomyosarcoma: Clinicopathologic Features and Molecular Analysis Highlighting Recurrent Genetic Alterations pathology genetics women's health
- Mice Missing CFAP77 Are Subfertile, Not Sterile2025-11-29
Mice engineered to lack a sperm tail protein called CFAP77 had sluggish sperm and fewer pups, but weren't infertile
Microtubule Inner Protein CFAP77 Contributes to Sperm Motility and Male Fertility in Mice male infertility animal study spermatogenesis genetics
- Two Brothers, One Gene, Zero Sperm Motility2025-11-11
Two siblings share novel homozygous DNHD1 mutations causing severe flagellar defects and near-total sperm immotility
Novel Biallelic *DNHD1* Variants Associated with Male Infertility with Severe MMAF Phenotype genetics male infertility semen quality case report
- Swapping One Protein Rescues Infertile Mouse Sperm Cells2025-10-28
Deleting a common protein-recycling complex stops sperm cell development in mice — swapping in a related complex fixes it
The constitutive 20S proteasome is required for the maintenance and differentiation of spermatogonia in mice male infertility spermatogenesis animal study genetics
- Two Cases, One Broken Flagella Gene2025-09-19
Whole-exome sequencing in two infertile men pinpoints new FSIP2 mutations that gut sperm flagella structure
Novel mutations in FSIP2 cause male infertility through multiple morphological abnormalities of the sperm flagella male infertility genetics
- A Puberty Gene Discovery Now Treats Hot Flashes2025-09-17
Over 60 genes are now linked to a puberty-blocking disorder, but genetics still explains only half of cases
Genetics of Idiopathic Hypogonadotropic Hypogonadism genetics hypogonadism male infertility narrative review
- Mutant DNA Repair Gene Found in Two Infertile Men2025-09-15
Two men with severe OAT carried novel loss-of-function variants in MDC1, a DNA damage checkpoint protein — one ICSI attempt failed
Novel Variants in MDC1 are Associated With Severe Oligoasthenoteratozoospermia genetics male infertility semen quality case report
- Older Mothers, More Severe Hypospadias: Small Study2025-07-15
Boys with hypospadias had shorter anogenital distance (4.64 vs 5.33 cm); maternal age ≥34 correlated with severe cases
Genetic Susceptibility and Pathogenesis of Hypospadias hypospadias pediatric urology case-control study genetics
- 18 'Male Fertility Genes' Turn Out Unnecessary2025-06-26
18 testis-enriched genes knocked out one by one in mice — none of them mattered for fertility
Mouse Genome Engineering Uncovers 18 Genes Dispensable for Male Reproduction animal study genetics male infertility semen quality
- Genetics Flags Two New ED Drug Targets2025-06-15
Mendelian randomization across ~325K individuals flagged two candidate drug targets for ED, both expressed in penile endothelial and smooth muscle cells
Identification of potential drug targets for erectile dysfunction with single-cell RNA sequencing: A Mendelian randomization study erectile dysfunction genetics vascular health biomarkers
- A Boy's Rare Mutation, Recreated in Mice2025-06-03
One boy's gene mutation was knocked into mice, who developed undescended testes and poor sperm quality
Cryptorchidism: Novel genetic insights into CCDC149 mutations cryptorchidism genetics animal study case report
- Sickle Cell Damages Sperm — So Does the Treatment2025-05-30
Systematic review finds SCD impairs sperm parameters, and both hydroxyurea and stem cell transplant make it worse
Reproductive function and sperm parameters in men with sickle cell disease: a systematic review male infertility semen quality genetics stem cells
- FSH Pharmacogenetics: Interesting Science, Unusable Data2025-04-30
Genetic variants in FSH and its receptor affect sperm production, but current evidence is too small and contradictory for clinical use
Pharmacogenetics of Follicle-Stimulating Hormone Action in the Male male infertility genetics infertility narrative review spermatogenesis