TY - JOUR
T1 - Patterns of co-occurring birth defects among infants with hypospadias
AU - Ludorf, Katherine L.
AU - Benjamin, Renata H.
AU - Navarro Sanchez, Maria Luisa
AU - McLean, Scott D.
AU - Northrup, Hope
AU - Mitchell, Laura E.
AU - Langlois, Peter H.
AU - Canfield, Mark A.
AU - Scheuerle, Angela E.
AU - Scott, Daryl A.
AU - Schaaf, Christian P.
AU - Ray, Joseph W.
AU - Oluwafemi, Omobola
AU - Chen, Han
AU - Swartz, Michael D.
AU - Lupo, Philip J.
AU - Agopian, A. J.
N1 - Publisher Copyright:
© 2020 Journal of Pediatric Urology Company
PY - 2021/2
Y1 - 2021/2
N2 - Introduction: 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. Objective: 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. Study design: 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). Results: 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. 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. Conclusion: 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.
AB - Introduction: 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. Objective: 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. Study design: 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). Results: 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. 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. Conclusion: 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.
KW - Birth defects
KW - Co-occurrence
KW - Epidemiology
KW - Hypospadias
KW - Observed-to-expected ratio
UR - https://www.scopus.com/pages/publications/85097375483
UR - https://www.scopus.com/pages/publications/85097375483#tab=citedBy
U2 - 10.1016/j.jpurol.2020.11.015
DO - 10.1016/j.jpurol.2020.11.015
M3 - Article
C2 - 33281045
AN - SCOPUS:85097375483
SN - 1477-5131
VL - 17
SP - 64.e1-64.e8
JO - Journal of Pediatric Urology
JF - Journal of Pediatric Urology
IS - 1
ER -