← all papers · genomics (16) Science journalism, not medical advice.
- 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
- 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
- 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
- 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
- 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
- Female Fetal Ligaments Aren't Hormonally Passive2026-04-05
In first-trimester human fetuses, caudal genital ligaments in both sexes express receptors for androgens, estrogens, and INSL3 — the "passive female default" model doesn't hold in humans
Receptivity of the Human Male and Female Fetal Caudal Genital Ligament to Gonadal Hormones cryptorchidism pediatric urology environmental exposure pregnancy genomics
- Too Many Gene Copies Wreck Yak Hybrid Sperm2026-03-21
Yak Y chromosomes carry 2–4× more active sperm-related gene copies than cattle; researchers propose this mismatch explains complete hybrid male sterility
Divergent Amplification of Y-Linked Dosage-Sensitive Genes Triggers Regulatory Mismatch Underlying Cattle-Yak Male Sterility male infertility spermatogenesis genomics animal study
- 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
- Penile Cancer's RNA Biomarkers: Big Promise, Small Studies2026-03-13
A Brazilian review catalogs miRNAs tied to penile cancer progression and HPV status — but the underlying studies are nearly all too small and descriptive to act on
MicroRNAs in Penile Cancer: Challenges, Opportunities, and Translational Perspectives penile cancer biomarkers genomics HPV 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
- Male Infertility Tests Haven't Changed in a Decade2026-02-20
A review of upcoming fertility tests genomics, AI, imaging with zero new data of its own
Emerging Diagnostics Tools for Severe Male Infertility and Non-obstructive Azoospermia male infertility genomics artificial intelligence biomarkers narrative review
- Blood Test Predicts Who Survives Salvage Chemo for Testicular Cancer2026-02-19
In relapsed germ cell tumors, a liquid biopsy tumor fraction above threshold predicted significantly worse OS; miR-371a-3p did not.
Impact of Circulating Tumor DNA and Copy-Number Alterations on Clinical Outcome in Relapsed/Refractory Germ Cell Tumors Treated With Salvage High-Dose Chemotherapy testicular cancer biomarkers genomics cohort study
- 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
- 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