Evidence map›Paper›PMID 33281045›Full record

ArticleJournal of pediatric urology2021

Patterns of co-occurring birth defects among infants with hypospadias.

Katherine L Ludorf, Renata H Benjamin, Maria Luisa Navarro Sanchez, Scott D McLean, Hope Northrup, Laura E Mitchell, Peter H Langlois, Mark A Canfield, Angela E Scheuerle, Daryl A Scott and 7 more

Erratum issuedOpen access · greenAbstract read
In one paragraph

Article in Journal of pediatric urology, 2021. 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 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 25% of its field
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

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors at 6 institutions in 3 countries.

Katherine L LudorfDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA.
Renata H BenjaminDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA.
Maria Luisa Navarro SanchezDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA.
Scott D McLeanClinical Genetics Section, The Children's Hospital of San Antonio, San Antonio, TX, USA.
Hope NorthrupDepartment of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.
Laura E MitchellDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA.
Peter H LangloisBirth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX, USA.
Mark A CanfieldBirth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX, USA.
Angela E ScheuerleDepartment of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Daryl A ScottDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.
Christian P SchaafDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Heidelberg University, Institute of Human Genetics, Heidelberg, Germany.
Joseph W RayDepartment of Pediatrics, Division of Medical Genetics and Metabolism, University of Texas Medical Branch, Galveston, TX, USA.
Omobola OluwafemiDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA.
Han ChenDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA; Center for Precision Health, UTHealth School of Public Health and UTHealth School of Biomedical Informatics, Houston, TX, USA.
Michael D SwartzDepartment of Biostatistics and Data Science, UTHealth School of Public Health, Houston, TX, USA.
Philip J LupoDepartment of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, TX, USA.
A J AgopianDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA. Electronic address: a.j.agopian@uth.tmc.edu.
University of Texas Health Science Center at Dallas · USBaylor College of Medicine · USTexas Department of State Health Services · USChildren's Hospital of San Antonio · USThe University of Texas Medical Branch at Galveston · USThe University of Texas Southwestern Medical Center · US

Funding

Institutional Career Development CoreKL2TR003168 · NCATS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MILLER, CHARLES C · 2019 to 2023
$4.9M
A multidisciplinary approach for identifying and characterizing novel congenital malformation syndromesR01HD093660 · NICHD · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI AGOPIAN, A.J., LUPO, PHILIP · 2018 to 2022
$2.0M
NCATS NIH HHS KL2 TR003168NICHD NIH HHS R01 HD093660
6 · The paper itself

Abstract

introductionHypospadias, one of the most common male genital birth defects, occurs in 1 out of every 200 male births in the United States and is increasing in prevalence globally.

objectiveThis study aimed to characterize the combinations of birth defects that co-occur with hypospadias more often than expected by chance, while accounting for the complex clustering patterns of congenital defects. STUDY

designWe analyzed cases with hypospadias and at least one additional co-occurring defect from the Texas Birth Defect Registry born between 1999 and 2014. For each combination, we calculated adjusted observed-to-expected (O/E) ratios, using Co-Occurring Defect Analysis (CODA).

resultsAmong 16,442 cases with hypospadias and without known syndromes, 2,084 (12.7%) had at least one additional defect. Many of the birth defect combinations within the highest adjusted O/E ratios included cardiac, musculoskeletal, and additional urogenital defects. For example, a top combination with an adjusted O/E of 139.0 included renal agenesis and dysgenesis, reduction defects of the upper limb, and other anomalies of upper limb (including shoulder girdle). High adjusted O/E ratios were also observed in combinations that included defects outside of the urogenital developmental field. For instance, the combination with the highest O/E ratio included buphthalmos, and congenital cataract and lens anomalies (adjusted O/E ratio: 192.9). Similar results were obtained when we restricted our analyses to cases with second- or third-degree hypospadias. DISCUSSION: Many combinations in the top results were expected (e.g., multiple urogenital defects); however, some combinations with seemingly unrelated patterns of defects may suggest the presence of some etiologic mechanisms yet to be identified.

conclusionIn summary, this study described patterns of co-occurring defect combinations with hypospadias that can inform further study and may provide insights for screening and diagnostic practices.

Indexed as

Congenital AbnormalitiesHypospadiasGenitalia, MaleHumansInfantMalePrevalenceRegistriesTexasUnited StatesBirth defectsCo-occurrenceEpidemiologyHypospadiasObserved-to-expected ratio

Identifiers

PMID33281045
PMCPMC7935759
OpenAlexW3106492168

What OpenQuestion holds

Textmetadata
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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.