Evidence map›Paper›PMID 32741459›Full record

ReviewFertility and sterility2020

Male infertility and genitourinary birth defects: there is more than meets the eye.

Nahid Punjani, Dolores J Lamb

Erratum issuedAbstract readReview
In one paragraph

Review in Fertility and sterility, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

14 citing papers in PubMed.

  1. Review
  2. Review
  3. Review
  4. Article
  5. Article
  6. Review
  7. Article
  8. Male infertility.Nature reviews. Disease primers · 2023
    Review
  9. Review
  10. Article
  11. Review
  12. Spinal muscular atrophy: Broad disease spectrum and sex-specific phenotypes.Biochimica et biophysica acta. Molecular basis of disease · 2021
    Review
  13. Article
  14. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

2 authors.

Nahid PunjaniJames Buchanan Brady Foundation Institute of Urology, Weill Cornell Medical College, New York, New York.
Dolores J LambJames Buchanan Brady Foundation Institute of Urology, Weill Cornell Medical College, New York, New York; Englander Institute for Precision Medicine, Weill Cornell Medical College, New York, New York; Center for Reproductive Genomics, Weill Cornell Medical College, New York, New York. Electronic address: dlamb@med.cornell.edu.

Funding

Targeting sperm-specific proteins during meiosis and sperm morphogenesisP01HD087157 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI MATZUK, MARTIN M. · 2017 to 2021
$6.2M
Optimization and pre-clinical evaluation of ADCY10 inhibitorsP50HD100549 · NICHD · WEILL MEDICAL COLL OF CORNELL UNIV · PI LEVIN, LONNY R · 2019 to 2021
$6.0M
Improving the Diagnosis of Congenital Genitourinary Defects.R01DK078121 · NIDDK · WEILL MEDICAL COLL OF CORNELL UNIV · PI LAMB, DOLORES JEAN · 2007 to 2021
$4.8M
FUNCTIONAL GENOMICS AND PROTEOMICS TO REVEAL REPRODUCTIVE-TRACT SPECIFIC PROTEINSR01HD095341 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI GARCIA, THOMAS · 2018 to 2020
$1.2M
NICHD NIH HHS P01 HD087157NICHD NIH HHS P50 HD100549NICHD NIH HHS R01 HD095341NIDDK NIH HHS R01 DK078121
6 · The paper itself

Abstract

Male factor infertility is a significant problem present in up to 50% of infertile couples. The relationship between male infertility and systemic disease is of significant interest, and emerging evidence suggests a relationship between male infertility and male genitourinary (GU) birth defects (cryptorchidism, hypospadias, ambiguous genitalia, and congenital anomalies of the kidney and urinary tract). Many of these birth defects are treated in isolation by busy urologists without acknowledgment that these may be related to more global syndromic conditions. Conversely, geneticists and nonurologists who treat variable systemic phenotypes may overlook GU defects, which are indeed related conditions. Many of these defects are attributed to copy number variants dosage-sensitive genes due to chromosome microdeletions or microduplications. These variants are responsible for disease phenotypes seen in the general population. The copy number variants described in this review are syndromic in some cases and responsible for both GU birth defects as well as other systemic phenotypes. This review highlights the emerging evidence between these birth defects, male infertility, and other systemic conditions.

Indexed as

FertilityChromosome DeletionChromosome DuplicationDNA Copy Number VariationsGene DosageGenetic Predisposition to DiseaseHumansInfertility, MaleMaleMutationPhenotypeRisk AssessmentRisk FactorsUrogenital Abnormalitiescopy number variantsGenitourinary birth defectsmale infertility

Identifiers

PMID32741459
PMCPMC10590568

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.