18 citations
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March 2004 in “The Journal of Urology” In this study, researchers used a hypospadiac rat model to demonstrate abnormal genital development, similar to human penoscrotal hypospadias, highlighting the model's value for studying penile growth and differentiation.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
1 citations
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September 2023 in “Curēus” In this case study, a 55-year-old male with a history of hypospadias repair developed urinary complications due to urethral hair bezoars, and the researchers reported that transcutaneous ND:YAG laser epilation effectively removed urethral hair, preventing recurrence of such issues.
September 2020 in “Journal of Health, Medicine and Nursing” This case report describes a 10-year-old twin boy with proximal hypospadias and undescended testis, highlighting the diagnostic and treatment evaluations for associated sex development disorders.
103 citations
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October 2003 in “Birth Defects Research” This review discusses the multifactorial etiology of hypospadias, including genetic predispositions and possible environmental factors, and highlights the need for further studies on genetic and environmental contributions to its increasing prevalence, without presenting new findings.
January 2023 in “The Annals of african surgery” This review concludes that preoperative hormonal stimulation with testosterone or DHT may help increase penile length and glans circumference, easing hypospadias surgery and potentially reducing postoperative complications.
4 citations
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December 2014 in “PubMed” This review suggests that dihydrotestosterone pretreatment may improve cosmetic outcomes in hypospadias repair, but more randomized trials are needed to determine its effectiveness due to currently limited evidence.
4 citations
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October 2023 in “African Journal of Urology” This study found that hypospadias in male children is significantly associated with genetic polymorphisms in the Steroid 5 alpha reductase type 2 gene, higher parental age, consanguinity, rural residence, and preterm labor, with maternal age and rural residence being the strongest independent predictors.
26 citations
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July 2020 in “Fertility and Sterility” Male infertility and genitourinary birth defects are often linked to genetic issues.
October 2022 in “Endocrine journal” In this study of male patients with 46,XY 5α-reductase type 2 deficiency, DHT therapy was effective in achieving penile enlargement during infancy, while testosterone replacement therapy proved more beneficial during puberty, possibly due to increased conversion to DHT.
39 citations
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April 2018 in “Hormones” This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.
21 citations
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January 2020 in “General and Comparative Endocrinology” This review examines the diverse roles of SRD5α enzymes across species, focusing on their involvement in steroid synthesis, sexual development, and various physiological processes, but reports no new clinical results.
13 citations
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June 2024 in “Frontiers in Genetics” This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.
6 citations
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August 2020 in “Frontiers in Pediatrics” This report discusses two pediatric cases of penile strangulation caused by maternal hair strands and emphasizes the need for swift diagnosis and treatment to prevent severe complications.
December 2023 in “Indian Journal of Endocrinology and Metabolism” In this case report from People's College of Medical Sciences, a 20-year-old man initially misdiagnosed with Addison's disease was ultimately found to have strongyloidiasis, with his symptoms and weight loss improving after antihelminthic treatment.
June 2023 in “Journal of personalized medicine” This study found that dihydrotestosterone treatment may be more beneficial for height in children with 5-α-reductase type 2 deficiency compared to testosterone enanthate, especially in the prepubertal period.
September 2022 in “Annals of medicine and surgery” This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.
January 2026 in “Pakistan journal of urology.” This case study detailed a rare instance of Penile Thread Tourniquet Syndrome in a 10-year-old boy, where a thread caused localized infection and edema without urethral damage, ultimately resulting in a favorable outcome through surgical and conservative management.
January 2011 in “InTech eBooks” This article reviews the development, classification, and embryology of hypospadias and reports no new findings; the authors highlight its unknown cause and discuss associated anatomical anomalies.
17 citations
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March 2006 in “BJU international” Using buccal mucosa for hypospadias repair in children is effective and reduces complications.
2 citations
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November 2019 in “BMC urology” This study used micro-CT to visualize preputial vessel distribution in a congenital hypospadias rat model, revealing that vessels at the preputial junction with good circulation were well-suited for vascular pedicle flaps in surgery.
September 2019 in “Research Square (Research Square)” In this study, micro-CT analysis revealed that severe hypospadias in finasteride-induced rats was associated with varying levels of preputial blood circulation, impacting potential surgical approaches.
1 citations
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October 2024 in “JCEM Case Reports” In this case report, a patient with pseudovaginal perineoscrotal hypospadias due to 5α-reductase deficiency presented gender dysphoria, and after genomic sequencing confirmation, injectable testosterone undecanoate treatment successfully developed desired male secondary sexual characteristics.
October 2019 in “Research Square (Research Square)” This study found that micro-CT imaging can effectively identify vascular structures in rat models of congenital hypospadias, providing anatomical insights for selecting preputial vessel flaps in surgical procedures.
1 citations
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June 2008 in “The Journal of Urology” This letter to the editor references a study on using dihydrotestosterone gel before hypospadias surgery but itself contains no new findings.
January 2022 in “International Microsurgery Journal” In this case report, the authors described how a 27-year-old male developed scarring and penile shortening after a previous lengthening procedure, which was successfully repaired using a pedicled superficial circumflex iliac artery perforator flap combined with a novel hybrid technique.
June 2015 in “Sonography” This case report describes a rare instance of multiple sebaceous cysts over the scrotum in a 22-year-old man, highlighting the effectiveness of ultrasound imaging for diagnosis and the need for surgical intervention in severe cases.
2 citations
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February 2020 in “Journal of Investigative Surgery” Flutamide-induced hypospadias in rats slows down early wound healing.
6 citations
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January 2013 in “Urology” This case report describes an 8-year-old child with penile tourniquet syndrome due to a constricting thread, which led to partial distal penile amputation and required surgical intervention.
2 citations
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July 2023 in “Urology Case Reports” This case report highlights an 11-month-old boy with near total amputation of the glans penis due to Penile Hair Tourniquet Syndrome, who underwent successful two-stage surgical repair for a satisfactory outcome.