Incidental Discovery of Persistent Müllerian Duct Syndrome in a Male With Bilateral Cryptorchidism and a Testicular Germ Cell Tumor: A Rare Case Report

Cureus, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 17, 2025

Cryptorchidism, or undescended testes, is a common congenital condition that significantly increases the risk of testicular malignancy, particularly germ cell tumors (GCTs), with higher in left testis. Persistent Müllerian Duct Syndrome (PMDS) rare disorder males, where structures such as uterus fallopian tubes are present despite individual having Y chromosome and male external genitalia. The concurrent occurrence cryptorchidism, tumors, PMDS extremely rare, making this case noteworthy. We report 24-year-old history bilateral who presented an abdominal mass intermittent pain. Imaging studies revealed complex suggestive tumor. During surgery, small structure resembling was discovered excised alongside both testes. Histopathological evaluation confirmed mixed GCT consisting yolk sac tumor, seminoma, teratoma arising from Additionally, incidental finding uterine-like consistent PMDS. Postoperatively, patient recovered without complications, tumor markers normalizing within one month. Follow-up imaging physical exams showed no recurrence at six months. This highlights association cryptorchidism emphasizing importance multidisciplinary approach to diagnosis, treatment, genetic counseling, regarding fertility associated conditions.

Language: Английский

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Testicular Atrophy and Growth Post Orchidopexy in Pediatric Patients: A Systematic Review

Journal of Pediatric Surgery Open, Journal Year: 2025, Volume and Issue: unknown, P. 100205 - 100205

Published: March 1, 2025

Language: Английский

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Prenatal exposure to organochlorine pesticides and polychlorinated biphenyls and risk of testicular germ cell cancer later in life

The Science of The Total Environment, Journal Year: 2025, Volume and Issue: 970, P. 179054 - 179054

Published: March 1, 2025

Exposure to environmental chemicals during fetal development may increase the risk of testicular germ cell cancer (TGCC), but few studies have tested hypothesis. We focused on organochlorine pesticides (OCPs) and polychlorinated biphenyls (PCBs), previously investigated in relation other male reproductive health outcomes. conducted a nested case-control study 332 mother-son pairs, comprising 65 TGCC cases 267 controls, identified from Danish Pregnancy Screening Registry with biobanked serum samples collected pregnant women 1985-1995, when exposure studied was relatively high. quantified seven OCPs 13 PCB congeners maternal by gas chromatography tandem mass spectrometry. diagnoses covariate information were derived nationwide registries. estimated associations between individual their mixture through adapted Cox regression quantile g-computation models. Median age at diagnosis 24.7 years. In main analyses, PCBs showed either slightly higher risks or no association (close Hazard Ratios (HR) 1.00), confidence intervals overlapping unity. simultaneously increasing all chemical concentrations one quartile resulted (HR 1.11, 95 % CI: 0.61; 2.05) after adjusting for confounders. Sensitivity analyses investigating tertiles did not change overall pattern results. Prenatal PCBs, pregnancy serum, associated later TGCC.

Language: Английский

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Cryptorchidism in Pediatrics and Adults

IntechOpen eBooks, Journal Year: 2025, Volume and Issue: unknown

Published: April 24, 2025

Cryptorchidism, which is characterized by the failure of one or both testes to descend into scrotum, presents unique challenges in pediatric and adult populations. It essential provide early diagnosis intervention children, predominantly through orchiopexy, with laparoscopic assistance when required, preserve fertility reduce risks testicular atrophy germ cell cancer. This chapter provides an in-depth classification cryptorchidism, outlining its different types their clinical significance. Cryptorchidism includes congenital forms like true undescended, ectopic, retractile, as well acquired ascending testis. emphasizes contributions genetic, hormonal, environmental factors. Diagnostic techniques, including examination, ultrasound, diagnostic laparoscopy, surgical adjunct hormonal treatments, are discussed. In adults, cryptorchidism frequently goes undetected until complications appear, malignancy, impaired spermatogenesis, atrophy. Management decisions involve weighing benefits orchiopexy against those orchiectomy. The highlights significance detection, personalized treatment strategies, long-term follow-up optimize reproductive, oncologic, psychosocial outcomes throughout lifespan, emphasizing a multidisciplinary approach.

Language: Английский

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Cryptorchidism and testicular cancer in the dog: unresolved questions and challenges in translating insights from human studies

Biology of Reproduction, Journal Year: 2024, Volume and Issue: 111(2), P. 269 - 291

Published: May 13, 2024

Cryptorchidism, the failure of one or both testes to descend into scrotum, and testicular cancer show a strong correlation in dogs humans. Yet, long-standing medical debates persist about whether location undescended directly causes humans if conditions stem from common origin. Although is prevalent disease dogs, even less known its cause with descent this species. This review investigates relation between these two disorders drawing insights human studies, examines key biomarkers identified thus far. In addition, it explores potential causal links, including impact temperature on maturing cells shared genetic Notably, literature reveals significant differences men reproductive development, histological molecular features tumors, prevalence specific tumor types, such as Sertoli cell tumors cryptorchid germ These disparities caution against using models for research underscore limitations when comparisons The paper concludes by suggesting initiatives enhance our understanding complex interplay cryptorchidism dogs.

Language: Английский

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Management of undescended testis

Current Opinion in Pediatrics, Journal Year: 2024, Volume and Issue: 36(5), P. 554 - 561

Published: July 31, 2024

Purpose of review Describe why this is timely and relevant. Undescended testis, or cryptorchidism, a common diagnosis encountered by pediatricians that requires collaboration with pediatric surgical specialists to optimize outcomes for these patients. As topic continues be heavily researched, it imperative understand current recommendations emerging management options including new techniques, as well pitfalls in care highlighted the literature. Recent findings main themes literature covered article. This primarily examines practice delays referral, unnecessary imaging being key factor time surgery. briefly discusses undescended testis various techniques used more recently proposed laparoscopic staged traction orchiopexy (Shehata technique). The ineffectiveness hormonal therapy also addressed. Summary describe implications clinical research. emphasizes prompt evaluation facilitate appropriately timed intervention, which plays major role Identifying patients at risk delayed referral an area focus improvement, along better resource utilization fewer imaging. Familiarization can patient education provider understanding risks/benefits.

Language: Английский

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Reproductive toxicology: keeping up with our changing world

Frontiers in Toxicology, Journal Year: 2024, Volume and Issue: 6

Published: Oct. 11, 2024

Reproductive toxicology testing is essential to safeguard public health of current and future generations. Traditional toxicological male reproduction has focused on evaluating substances for acute toxicity the reproductive system, with fertility assessment as a main endpoint infertility adverse outcome. Newer studies in last few decades have significantly widened our understanding what represents an event toxicology, thus changed perspective constitutes toxicant, such endocrine disrupting chemicals that affect offspring intergenerational manner. Besides or congenital abnormalities, outcomes can present increased likelihood various problems offspring, including metabolic syndrome, neurodevelopmental like autism cancer predisposition, among others. To enable toxicologic accurately represent population, designs need model changing population characteristics exposure circumstances. Current trends increasing importance human include paternal age, associated decline nicotinamide adenine dinucleotide (NAD), higher prevalence obesity, both which are factors study design should account for. In this article, we highlighted some limitations standard protocols, expanding assessed by genetic epigenetic sperm parameters, potential recent developments, mixture testing, novel animal models, vitro systems organoids, multigenerational well silico modelling, machine learning artificial intelligence.

Language: Английский

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Association of endocrine disrupting chemicals with male reproductive health

Elsevier eBooks, Journal Year: 2024, Volume and Issue: unknown

Published: Jan. 1, 2024

Language: Английский

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Associations between maternal periconceptional exposure to PM2.5 and the risk of cryptorchidism: a case-control study of 4274

Scientific Reports, Journal Year: 2024, Volume and Issue: 14(1)

Published: Nov. 29, 2024

Currently, there is limited evidence regarding the association between prenatal exposure to environmental fine particulate matter (PM2.5) and occurrence of cryptorchidism. The objective this study was evaluate potential correlation PM2.5 likelihood cryptorchidism developing in offspring. We performed a 1:1 case–control study, defining cases as children diagnosed with at Children's Hospital Affiliated Chongqing Medical University from 2013 2017, while control group comprised born corresponding years who did not have any birth defects, chromosomal abnormalities, had only trauma-related treatments. Between 2012 monthly averages PM2.5, other pollutants (O3, PM10) temperature were gathered based on geographical coordinates patients' residences. assessed two using multivariate logistic regression model, sensitivity analysis conducted assess stability model. included total 2137 matched controls 2017. Our findings revealed that positive during first 2 months pregnancy According development appears be associated maternal early pregnancy.

Language: Английский

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Хромосомная нестабильность у мальчиков с крипторхизмом

Педиатрия Восточная Европа, Journal Year: 2024, Volume and Issue: 12(4), P. 531 - 541

Published: Dec. 23, 2024

Введение. До настоящего времени хромосомная нестабильность у мальчиков с крипторхизмом не изучалась. Тем менее хаотизация генома, проявляющаяся в виде хромосомной нестабильности, рассматривается качестве возможного механизма пороков развития и нарушения функционирования различных систем организма детей. Цель. Анализ нестабильности крипторхизмом. Материалы методы. С помощью цитогенетических молекулярно-цитогенетических (флюоресцентная гибридизация in situ / FISH) методов были исследованы лимфоциты периферической крови 30 врожденными пороками развития, которых наблюдался крипторхизм. Результаты. В ходе цитогенетического анализа 14 (47%) была выявлена численных структурных аномалий, а также особенностей морфологии поведения хромосом. Помимо этого, 1 ребенка обнаружена структурная аномалия (46,ХУ,del(15)(q11.2q13)), 3 (10%) – соматический мозаицизм по численным аномалиям (анеуплоидия аутосом гоносом: 45,Х[3]/46,ХY[37]; 47,XY,+9[9]/46,XY[21]; 45,Х[3]/46,ХУ[27]); 4 (13%) хромосомный гетероморфизм (хромосомные варианты: 46,ХУqh-,15ps+; 46,ХУ,9phqh; 46,ХУ,16qh-; 46,ХУ,1phqh,9phqh). FISH позволил подтвердить наличие уточнить ее уровень (долю аномальных клеток). Среди вышеуказанных форм ведущее место занимало нарушение морфологии, структуры хромосом (преимущественно морфологии/ 7 мальчиков, структурные аномалии 5 анеуплоидия 2 мальчика). Это позволило выдвинуть предположения о том, что может лежать основе возникновения при крипторхизме. Заключение. результате проведенного исследования обнаружено, распространена среди являться одним из ключевых элементов патогенетического каскада, приводящего к этому врожденному пороку. Materials and methods. Using cytogenetic molecular (FISH) techniques, blood samples (lymphocytes) of boys with congenital malformations including cryptorchidism was tested. Results. A analysis revealed chromosomal instability manifested as numerical structural abnormalities well chromosomes morphology behavior features (47%). Additionally, one boy demonstrated a imbalance (46,XU,del(15)(q11. 2q13)); presented somatic mosaicism by anomalies (autosomal gonosomal aneuploidy: 45,X[3]/46,XY[37]; 45,X[3]/46,XY[27]); heteromorphism (chromosomal variants: 46,XUqh-,15ps+; 46,XU,9phqh; 46,XU,16qh-; 46,XU,1phqh,9phqh). allowed confirming the presence instability, specifying its level (abnormal cells proportion). Among above-mentioned forms leading place belonged to morphology, chromosome structure disorders (prevailing morphology/behavior boys, aneuploidy boys). These findings hypothesizing an underlying cause cryptorchidism. Conclusion. This study that is common among may represent key elements pathogenetic cascade this malformation.

Language: Русский

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