penisdoc.md

← all papers · genomics (11) Science journalism, not medical advice.

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
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
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
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