Patterns of co-occurring birth defects among infants with hypospadias.
Birth defects
Co-occurrence
Epidemiology
Hypospadias
Observed-to-expected ratio
Journal
Journal of pediatric urology
ISSN: 1873-4898
Titre abrégé: J Pediatr Urol
Pays: England
ID NLM: 101233150
Informations de publication
Date de publication:
02 2021
02 2021
Historique:
received:
28
07
2020
revised:
02
11
2020
accepted:
09
11
2020
pubmed:
8
12
2020
medline:
22
6
2021
entrez:
7
12
2020
Statut:
ppublish
Résumé
Hypospadias, 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. This 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. We 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). Among 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. 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. In 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.
Identifiants
pubmed: 33281045
pii: S1477-5131(20)30639-2
doi: 10.1016/j.jpurol.2020.11.015
pmc: PMC7935759
mid: NIHMS1646119
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
64.e1-64.e8Subventions
Organisme : NCATS NIH HHS
ID : KL2 TR003168
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD093660
Pays : United States
Commentaires et corrections
Type : ErratumIn
Informations de copyright
Copyright © 2020 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.
Déclaration de conflit d'intérêts
Conflict of interest None.
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