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; Christian P. Schaaf; Joseph W. Ray; Omobola Oluwafemi; Han Chen; Michael D. Swartz; Philip J. Lupo; A. J. Agopian

doi:10.1016/j.jpurol.2020.11.015

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, Christian P. Schaaf, Joseph W. Ray, Omobola Oluwafemi, Han Chen, Michael D. Swartz, Philip J. Lupo, A. J. Agopian

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	64.e1-64.e8
Journal	Journal of Pediatric Urology
Volume	17
Issue number	1
DOIs	https://doi.org/10.1016/j.jpurol.2020.11.015
State	Published - Feb 2021

Keywords

Birth defects
Co-occurrence
Epidemiology
Hypospadias
Observed-to-expected ratio

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Urology

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10.1016/j.jpurol.2020.11.015

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Ludorf, K. L., Benjamin, R. H., Navarro Sanchez, M. L., McLean, S. D., Northrup, H., Mitchell, L. E., Langlois, P. H., Canfield, M. A., Scheuerle, A. E., Scott, D. A., Schaaf, C. P., Ray, J. W., Oluwafemi, O., Chen, H., Swartz, M. D., Lupo, P. J., & Agopian, A. J. (2021). Patterns of co-occurring birth defects among infants with hypospadias. Journal of Pediatric Urology, 17(1), 64.e1-64.e8. https://doi.org/10.1016/j.jpurol.2020.11.015

Ludorf, KL, Benjamin, RH, Navarro Sanchez, ML, McLean, SD, Northrup, H, Mitchell, LE, Langlois, PH, Canfield, MA, Scheuerle, AE, Scott, DA, Schaaf, CP, Ray, JW, Oluwafemi, O, Chen, H, Swartz, MD, Lupo, PJ & Agopian, AJ 2021, 'Patterns of co-occurring birth defects among infants with hypospadias', Journal of Pediatric Urology, vol. 17, no. 1, pp. 64.e1-64.e8. https://doi.org/10.1016/j.jpurol.2020.11.015

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abstract = "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.",

keywords = "Birth defects, Co-occurrence, Epidemiology, Hypospadias, Observed-to-expected ratio",

author = "Ludorf, {Katherine L.} and Benjamin, {Renata H.} and {Navarro Sanchez}, {Maria Luisa} and McLean, {Scott D.} and Hope Northrup and Mitchell, {Laura E.} and Langlois, {Peter H.} and Canfield, {Mark A.} and Scheuerle, {Angela E.} and Scott, {Daryl A.} and Schaaf, {Christian P.} and Ray, {Joseph W.} and Omobola Oluwafemi and Han Chen and Swartz, {Michael D.} and Lupo, {Philip J.} and Agopian, {A. J.}",

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year = "2021",

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doi = "10.1016/j.jpurol.2020.11.015",

language = "English (US)",

volume = "17",

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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.

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

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Patterns of co-occurring birth defects among infants with hypospadias

Abstract

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