Callum Lavoie, Brian Chun, Melanie Au, Christine Do, S Scott Sparks, Andy Y Chang
{"title":"尿道下裂和隐睾患者性发育障碍的发病率。","authors":"Callum Lavoie, Brian Chun, Melanie Au, Christine Do, S Scott Sparks, Andy Y Chang","doi":"10.1016/j.jpurol.2024.09.017","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Hypospadias and undescended testicles (UDT) are common congenital conditions, affecting approximately 1 in 125 and 1 in 33 boys, respectively. There has been limited contemporary data regarding the prevalence of Disorders of Sex Development (DSD) in patients with a history of both hypospadias and UDT.</p><p><strong>Objective: </strong>Our objective is to determine the prevalence of DSD among patients presenting with hypospadias and UDT.</p><p><strong>Design, setting, and participants: </strong>Electronic medical records were reviewed, and a retrospective chart review was conducted on 177 patients that were evaluated at our institution from 2000 to 2021 with a diagnosis of hypospadias and UDT. The degree of hypospadias, presence of and palpability of UDT, and prevalence and type of DSD were recorded.</p><p><strong>Outcome measurements and statistical analysis: </strong>The degree of hypospadias, presence of and palpability of UDT, and prevalence and type of DSD were recorded. Chi-squared and Fisher's exact tests were conducted for descriptive statistical analyses as appropriate. Logistic regression analyses were conducted, with adjusted models including demographic and relevant clinical data.</p><p><strong>Results: </strong>177 patients were identified with both hypospadias and UDT, with 17/111 (15.3 %) diagnosed with DSD. The most common etiology of DSD was mixed gonadal dysgenesis (35.3 %; n = 6). Proximal hypospadias made up only 59.6 % of those without DSD vs. 100 % of those with confirmed DSD (p = 0.0044). A significantly smaller proportion of DSD patients had bilaterally palpable gonads compared to those without DSD (29.4 % vs. 79.8 %, p < 0.0001). Compared to those with palpable testes, patients with one non-palpable testicle had up to 26.67 times greater odds of DSD.</p><p><strong>Conclusions: </strong>To date, we present the largest cohort of patients that have undergone DSD work up for the combined presentation of hypospadias and UDT. Our findings highlight an increase in DSD diagnosis in proximal hypospadias patients with non-palpable UDTs, which offers further evidence and support for pursuing DSD diagnostic work-up in all proximal hypospadias patients with UDTs.</p>","PeriodicalId":16747,"journal":{"name":"Journal of Pediatric Urology","volume":null,"pages":null},"PeriodicalIF":2.0000,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Prevalence of disorders of sex development in patients with hypospadias and cryptorchidism.\",\"authors\":\"Callum Lavoie, Brian Chun, Melanie Au, Christine Do, S Scott Sparks, Andy Y Chang\",\"doi\":\"10.1016/j.jpurol.2024.09.017\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Hypospadias and undescended testicles (UDT) are common congenital conditions, affecting approximately 1 in 125 and 1 in 33 boys, respectively. There has been limited contemporary data regarding the prevalence of Disorders of Sex Development (DSD) in patients with a history of both hypospadias and UDT.</p><p><strong>Objective: </strong>Our objective is to determine the prevalence of DSD among patients presenting with hypospadias and UDT.</p><p><strong>Design, setting, and participants: </strong>Electronic medical records were reviewed, and a retrospective chart review was conducted on 177 patients that were evaluated at our institution from 2000 to 2021 with a diagnosis of hypospadias and UDT. The degree of hypospadias, presence of and palpability of UDT, and prevalence and type of DSD were recorded.</p><p><strong>Outcome measurements and statistical analysis: </strong>The degree of hypospadias, presence of and palpability of UDT, and prevalence and type of DSD were recorded. Chi-squared and Fisher's exact tests were conducted for descriptive statistical analyses as appropriate. Logistic regression analyses were conducted, with adjusted models including demographic and relevant clinical data.</p><p><strong>Results: </strong>177 patients were identified with both hypospadias and UDT, with 17/111 (15.3 %) diagnosed with DSD. The most common etiology of DSD was mixed gonadal dysgenesis (35.3 %; n = 6). Proximal hypospadias made up only 59.6 % of those without DSD vs. 100 % of those with confirmed DSD (p = 0.0044). A significantly smaller proportion of DSD patients had bilaterally palpable gonads compared to those without DSD (29.4 % vs. 79.8 %, p < 0.0001). Compared to those with palpable testes, patients with one non-palpable testicle had up to 26.67 times greater odds of DSD.</p><p><strong>Conclusions: </strong>To date, we present the largest cohort of patients that have undergone DSD work up for the combined presentation of hypospadias and UDT. Our findings highlight an increase in DSD diagnosis in proximal hypospadias patients with non-palpable UDTs, which offers further evidence and support for pursuing DSD diagnostic work-up in all proximal hypospadias patients with UDTs.</p>\",\"PeriodicalId\":16747,\"journal\":{\"name\":\"Journal of Pediatric Urology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2024-09-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Pediatric Urology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1016/j.jpurol.2024.09.017\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pediatric Urology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.jpurol.2024.09.017","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}
Prevalence of disorders of sex development in patients with hypospadias and cryptorchidism.
Background: Hypospadias and undescended testicles (UDT) are common congenital conditions, affecting approximately 1 in 125 and 1 in 33 boys, respectively. There has been limited contemporary data regarding the prevalence of Disorders of Sex Development (DSD) in patients with a history of both hypospadias and UDT.
Objective: Our objective is to determine the prevalence of DSD among patients presenting with hypospadias and UDT.
Design, setting, and participants: Electronic medical records were reviewed, and a retrospective chart review was conducted on 177 patients that were evaluated at our institution from 2000 to 2021 with a diagnosis of hypospadias and UDT. The degree of hypospadias, presence of and palpability of UDT, and prevalence and type of DSD were recorded.
Outcome measurements and statistical analysis: The degree of hypospadias, presence of and palpability of UDT, and prevalence and type of DSD were recorded. Chi-squared and Fisher's exact tests were conducted for descriptive statistical analyses as appropriate. Logistic regression analyses were conducted, with adjusted models including demographic and relevant clinical data.
Results: 177 patients were identified with both hypospadias and UDT, with 17/111 (15.3 %) diagnosed with DSD. The most common etiology of DSD was mixed gonadal dysgenesis (35.3 %; n = 6). Proximal hypospadias made up only 59.6 % of those without DSD vs. 100 % of those with confirmed DSD (p = 0.0044). A significantly smaller proportion of DSD patients had bilaterally palpable gonads compared to those without DSD (29.4 % vs. 79.8 %, p < 0.0001). Compared to those with palpable testes, patients with one non-palpable testicle had up to 26.67 times greater odds of DSD.
Conclusions: To date, we present the largest cohort of patients that have undergone DSD work up for the combined presentation of hypospadias and UDT. Our findings highlight an increase in DSD diagnosis in proximal hypospadias patients with non-palpable UDTs, which offers further evidence and support for pursuing DSD diagnostic work-up in all proximal hypospadias patients with UDTs.
期刊介绍：
The Journal of Pediatric Urology publishes submitted research and clinical articles relating to Pediatric Urology which have been accepted after adequate peer review.
It publishes regular articles that have been submitted after invitation, that cover the curriculum of Pediatric Urology, and enable trainee surgeons to attain theoretical competence of the sub-specialty.
It publishes regular reviews of pediatric urological articles appearing in other journals.
It publishes invited review articles by recognised experts on modern or controversial aspects of the sub-specialty.
It enables any affiliated society to advertise society events or information in the journal without charge and will publish abstracts of papers to be read at society meetings.
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