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1.
Can Vet J ; 65(7): 703-706, 2024 Jul.
Article de Anglais | MEDLINE | ID: mdl-38952757

RÉSUMÉ

Testicular tumors are rarely reported in rabbits. In this case study, a 4-year-old Holland lop rabbit, previously diagnosed with unilateral cryptorchidism, was presented because of enlargement of the descended testis. The rabbit was clinically normal. Following unilateral orchiectomy and scrotal ablation, histopathological analysis revealed 2 distinct types of testicular tumor in the descended testis: a granular cell tumor and a seminoma. To the best of the author's knowledge, this is the first documented report of simultaneous testicular tumors in the testis of a rabbit with unilateral cryptorchidism.


Tumeur à cellules granulaires et séminome simultanés dans le testicule descendu d'un lapin cryptorchideLes tumeurs testiculaires sont rarement rapportées chez le lapin. Dans cette étude de cas, un lapin Holland Lop de 4 ans, précédemment diagnostiqué avec une cryptorchidie unilatérale, a été présenté en raison d'une hypertrophie du testicule descendu. Le lapin était cliniquement normal. Après orchidectomie unilatérale et ablation scrotale, l'analyse histopathologique a révélé 2 types distincts de tumeur testiculaire dans le testicule descendu : une tumeur à cellules granuleuses et un séminome. À la connaissance de l'auteur, il s'agit du premier rapport documenté de tumeurs testiculaires simultanées dans le testicule d'un lapin atteint de cryptorchidie unilatérale.(Traduit par Dr Serge Messier).


Sujet(s)
Cryptorchidie , Tumeur à cellules granuleuses , Orchidectomie , Séminome , Tumeurs du testicule , Animaux , Mâle , Lapins , Tumeurs du testicule/médecine vétérinaire , Tumeurs du testicule/anatomopathologie , Tumeurs du testicule/chirurgie , Cryptorchidie/médecine vétérinaire , Cryptorchidie/chirurgie , Cryptorchidie/anatomopathologie , Séminome/médecine vétérinaire , Séminome/anatomopathologie , Séminome/chirurgie , Tumeur à cellules granuleuses/médecine vétérinaire , Tumeur à cellules granuleuses/anatomopathologie , Tumeur à cellules granuleuses/chirurgie , Orchidectomie/médecine vétérinaire
2.
Medicine (Baltimore) ; 103(27): e38812, 2024 Jul 05.
Article de Anglais | MEDLINE | ID: mdl-38968470

RÉSUMÉ

Acquired undescended testes were once considered a sporadic disease. In recent years, reports suggest that they are not uncommon, with an incidence rate about 3 times that of congenital undescended testes. The etiology of acquired undescended testes remains inconclusive, clinical diagnostic standards are unclear, and treatment approaches are still controversial. There is ongoing debate about the mechanism of testicular ascent. The prevailing view is that acquired undescended testes occur due to the partial absorption of the gubernaculum, which forms part of the parietal peritoneum. The residual gubernacular fibers continuously pull on the spermatic cord, preventing the spermatic cord from elongating proportionately to somatic growth, leading to a re-ascent of the testis. Acquired undescended testes may increase the risk of testicular cancer, but this is still debated. The preferred treatment method is also controversial. However, surgical fixation has an immediate effect; no studies have proven that early surgery improves fertility in patients. The etiology of acquired undescended testes is closely related to the continuous pull of the residual gubernacular fibers on the spermatic cord, which prevents the cord from extending proportionately to body growth. There are no clear diagnostic standards for acquired undescended testes yet, and spontaneous descent is possible, so testicular fixation surgery may not be the preferred treatment method.


Sujet(s)
Cryptorchidie , Humains , Mâle , Cryptorchidie/thérapie , Cryptorchidie/diagnostic , Cryptorchidie/étiologie , Testicule , Orchidopexie
3.
Zhonghua Yi Xue Za Zhi ; 104(26): 2424-2430, 2024 Jul 09.
Article de Chinois | MEDLINE | ID: mdl-38978366

RÉSUMÉ

Objective: To investigate the relationship between maternal exposures to peri-conceptional risk factors and the risk of hypospadias and cryptorchidism in offspring. Methods: Pregnant women who delivered male newborns and participated in the China birth cohort study between February 2018 and December 2020 at the research center of Beijing Obstetrics and Gynecology Hospital, Capital Medical University were selected for the study. All were enrolled at 6-13+6 weeks of their gestation. Baseline risk factor information was collected by questionnaire survey. Information on the outcome of hypospadias and cryptorchidism was obtained by clinical examination at birth and ultrasonography. Logistic regression was used to analyze the Odds Ratio (OR) and 95% Confidence Interval (95%CI) of each factor with respect to the onset of the outcome. Results: A total of 15, 833 pregnant women with an average age of (31.81±3.84) years were included. Among their offsprings, 113 were diagnosed as hypospadias or cryptorchidism (42 hypospadias, 69 cryptorchidism, and 2 both hypospadias and crypterchidism), with an incidence of 7.14‰. The results of multivariate logistic regression analysis showed that mothers with pregnancy history of birth defects (OR=3.01, 95%CI: 1.09-8.35), with preconception Hepatitis B infection (OR=4.74, 95%CI: 1.10-20.42), fetal growth restriction (OR=4.02, 95%CI: 2.10-7.68), multivitamin use since preconception (OR=1.98, 95%CI: 1.12-3.52), and never cook and eat at home (OR=2.17, 95%CI: 1.23-3.82) were risk factors for hypospadias and cryptorchidism (all P<0.05). Conclusions: Obesity in early pregnancy, preconception Hepatitis B infection, pregnancy history of birth defects, fetal growth restriction, multivitamin use before pregnancy, and rarely cook and eat at home were associated with an increased risk of hypospadias or cryptorchidism in their offsprings.


Sujet(s)
Cryptorchidie , Hypospadias , Exposition maternelle , Humains , Hypospadias/étiologie , Hypospadias/épidémiologie , Cryptorchidie/étiologie , Cryptorchidie/épidémiologie , Femelle , Mâle , Grossesse , Adulte , Facteurs de risque , Exposition maternelle/effets indésirables , Chine/épidémiologie , Nouveau-né , Cohorte de naissance , Modèles logistiques , Effets différés de l'exposition prénatale à des facteurs de risque/étiologie , Enquêtes et questionnaires
4.
Diving Hyperb Med ; 54(2): 133-136, 2024 Jun 30.
Article de Anglais | MEDLINE | ID: mdl-38870956

RÉSUMÉ

Hyperbaric oxygen treatment (HBOT) can be utilised for necrotising soft tissue infections, clostridial myonecrosis (gas gangrene), crush injuries, acute traumatic ischaemia, delayed wound healing, and compromised skin grafts. Our case was a 17-month-old male patient with Noonan syndrome, idiopathic thrombocytopenic purpura, and bilateral undescended testicles. Haematoma and oedema developed in the scrotum and penis the day after bilateral orchiopexy and circumcision. Ischaemic appearances were observed on the penile and scrotal skin on the second postoperative day. Enoxaparin sodium and fresh frozen plasma were started on the recommendation of haematology. Hyperbaric oxygen treatment was initiated considering the possibility of tissue necrosis. We observed rapid healing within five days. We present this case to emphasise that HBOT may be considered as an additional treatment option in patients with similar conditions. To our knowledge, no similar cases have been reported in the literature.


Sujet(s)
Circoncision masculine , Hématome , Oxygénation hyperbare , Syndrome de Noonan , Orchidopexie , Humains , Mâle , Oxygénation hyperbare/méthodes , Hématome/étiologie , Hématome/thérapie , Circoncision masculine/effets indésirables , Syndrome de Noonan/complications , Syndrome de Noonan/thérapie , Nourrisson , Orchidopexie/méthodes , Cryptorchidie/complications , Cryptorchidie/chirurgie , Cryptorchidie/thérapie , Purpura thrombopénique idiopathique/complications , Purpura thrombopénique idiopathique/thérapie , Scrotum/traumatismes , Maladies du pénis/étiologie , Maladies du pénis/thérapie , Complications postopératoires/thérapie , Complications postopératoires/étiologie , Énoxaparine/usage thérapeutique , Énoxaparine/administration et posologie , Plasma sanguin , Oedème/étiologie , Oedème/thérapie
6.
World J Urol ; 42(1): 386, 2024 Jun 25.
Article de Anglais | MEDLINE | ID: mdl-38918219

RÉSUMÉ

BACKGROUND: The last decades revealed new scientific knowledge regarding the fertility and potential malignancy of undescended testis AQ2(UDT). Accordingly, many guidelines changed their recommendation concerning timing of therapy, with the goal of an earlier time of surgery. METHODS: We analyzed the number of new diagnosis and performed surgeries in predefined age groups provided by the obligatory annual reports of German hospitals in the reimbursement.INFO"-tool between 2006 and 2020. RESULTS: Overall, 124,741 cases were analyzed. We showed a slight increase in performed surgeries in the first year by 2% per year with a main increase till 2011, a constant number of surgeries between first and 4th year and a decrease of surgeries between 5 and 14th year of living with a main decrease till 2009 by 3% per year. CONCLUSION: Even if our results illustrate an increasing adaption of the guideline's recommendation, there is still a significant number of patients who receive later treatment. More research about the reasons and circumstances for the latter is needed.


Sujet(s)
Cryptorchidie , Orchidopexie , Guides de bonnes pratiques cliniques comme sujet , Cryptorchidie/chirurgie , Humains , Mâle , Allemagne/épidémiologie , Enfant , Adolescent , Enfant d'âge préscolaire , Nourrisson , Facteurs temps , Jeune adulte , Adulte
7.
Adv Pediatr ; 71(1): 169-179, 2024 Aug.
Article de Anglais | MEDLINE | ID: mdl-38944481

RÉSUMÉ

Undescended testis is the most common genital disorder identified at birth. Boys who do not have spontaneous descent of the testis at 6 months of age, adjusted for gestational age, should be referred to pediatric urology for timely orchiopexy. Retractile testes are at risk for secondary ascent of the testes and should be monitored by physical examination annually. If there is concern for ascent of the testis, pediatric urology referral is recommended. Most cases of phimosis can be managed medically with topical corticosteroids and manual retraction of the foreskin.


Sujet(s)
Cryptorchidie , Phimosis , Humains , Mâle , Cryptorchidie/thérapie , Cryptorchidie/diagnostic , Cryptorchidie/chirurgie , Phimosis/thérapie , Phimosis/diagnostic , Enfant , Orchidopexie , Nourrisson , Nouveau-né , Enfant d'âge préscolaire
8.
Reprod Domest Anim ; 59(6): e14635, 2024 Jun.
Article de Anglais | MEDLINE | ID: mdl-38837470

RÉSUMÉ

A 1-year-old European shorthair male cat with a normally developed penis was subjected to genetic, endocrinological and histological studies due to unilateral cryptorchidism. The blood testosterone level was typical for males, while the level of anti-Mullerian hormone (AMH) was very low. Surgical removal of internal reproductive organs was followed by a histological study, which revealed inactive testicles with neoplastic changes and derivatives of Mullerian ducts. Cytogenetic analysis showed a normal XY sex chromosome complement and molecular analysis confirmed the presence of Y-linked genes (SRY and ZFY). Although the level of AMH was low, two normal copies of the AMH gene were found using droplet digital PCR (ddPCR). Analysis of the coding sequences of two candidate genes (AMH and AMHR2) for persistent Mullerian duct syndrome (PMDS) in the affected cat and in control male cats (n = 24) was performed using the Sanger sequencing method. In the affected cat, homozygosity was found for three novel missense variants in Exon 1 (one SNP) and Exon 5 (two SNPs) of AMH, but the same homozygous genotypes were also observed in one and two control cats, respectively, whose sex development was not examined. Three known synonymous variants with homozygous status were found in AMHR2. We conclude that the DNA variants identified in AMH and AMHR2 are not responsible for PMDS in the affected cat.


Sujet(s)
Hormone antimullérienne , Maladies des chats , Récepteurs peptidiques , Récepteurs TGF-bêta , Animaux , Chats , Mâle , Hormone antimullérienne/génétique , Maladies des chats/génétique , Récepteurs peptidiques/génétique , Récepteurs TGF-bêta/génétique , Cryptorchidie/génétique , Cryptorchidie/médecine vétérinaire , Troubles du développement sexuel de sujets 46, XY/génétique , Troubles du développement sexuel de sujets 46, XY/médecine vétérinaire , Mutation , Mutation faux-sens
9.
Acta Paediatr ; 113(8): 1949-1956, 2024 Aug.
Article de Anglais | MEDLINE | ID: mdl-38733138

RÉSUMÉ

AIM: To assess testicular volume at puberty for boys who underwent orchidopexy at 9 or at 36 months compared to boys with spontaneous postnatal descent. METHODS: At age 6 months, boys with congenital unilateral cryptorchidism were randomised to surgery at 9 or 39 months of age and followed to 16 years in parallel with boys with spontaneous postnatal descent. Ultrasound was done at 11 and 16 years to determine testicular volume. The ratio of the initially undescended testis to its scrotal counterpart was used to assess testicular growth. RESULTS: At age 16, the ratio was lower (p < 0.00) in the late group compared to the early group. At 16 years, the spontaneously descended testes were significantly smaller than their scrotal counterparts but larger than the operated groups (early p < 0.01 and late p < 0.00). CONCLUSION: Our data at 16 years show that orchidopexy at 9 months results in better testicular growth compared to 3 years but did not reach the corresponding volumes of their scrotal counterparts. This indicates that earlier surgery is beneficial to testicular growth. At age 16, the postnatally descended testes were not only larger than the surgically treated testes but also exhibited impaired testicular growth.


Sujet(s)
Cryptorchidie , Orchidopexie , Puberté , Testicule , Humains , Mâle , Cryptorchidie/chirurgie , Cryptorchidie/imagerie diagnostique , Cryptorchidie/anatomopathologie , Testicule/croissance et développement , Testicule/imagerie diagnostique , Adolescent , Nourrisson , Enfant , Enfant d'âge préscolaire , Puberté/physiologie , Taille d'organe , Échographie , Facteurs âges , Études de suivi
10.
Res Vet Sci ; 174: 105308, 2024 Jul.
Article de Anglais | MEDLINE | ID: mdl-38788298

RÉSUMÉ

Myxosarcoma is a rare malignant mesenchymal neoplasm of soft tissues originating from fibroblasts. This report describes a case of bilateral myxosarcoma in a three-year-old cryptorchid dog. The animal was referred to the veterinary clinic because of the absence of testicles in the scrotum. Ultrasonography revealed two masses in the abdominal cavity with testicular echotexture. Exploratory laparotomy revealed the presence of cryptorchid testicles, and orchiectomy was recommended to treat the animal. Testicles were gray and reddish in color and enlarged with firm consistency. For histopathological analysis, testis fragments were fixed in 10% formalin and stained with hematoxylin and eosin and Alcian blue. Immunohistochemistry was performed using the following primary antibodies:1A4, HHF35, desmin, glial fibrillary acidic protein, CD31, S-100, vimentin, and Ki-67. Histopathological evaluation revealed the proliferation of fusiform and round cells associated with extensive areas of myxoid matrix. Neoplasms featured multinucleated giant cells, pleomorphism, karyomegaly, nuclear hyperchromasia, anisokaryosis, mitoses, and necrosis, with coarse chromatin and prominent nucleoli. Immunohistochemical analysis of vimentin- and the Alcian blue-positive cells confirmed the diagnosis of myxosarcoma. A high mitotic count and Ki-67 proliferative index suggests this myxosarcoma had a high degree of malignancy. To the best of our knowledge, this is the first case report of bilateral testicular myxosarcoma in a cryptorchid animal.


Sujet(s)
Cryptorchidie , Maladies des chiens , Myxosarcome , Tumeurs du testicule , Mâle , Animaux , Chiens , Maladies des chiens/anatomopathologie , Maladies des chiens/chirurgie , Tumeurs du testicule/médecine vétérinaire , Tumeurs du testicule/anatomopathologie , Tumeurs du testicule/chirurgie , Myxosarcome/médecine vétérinaire , Myxosarcome/anatomopathologie , Cryptorchidie/médecine vétérinaire , Cryptorchidie/anatomopathologie , Orchidectomie/médecine vétérinaire , Immunohistochimie/médecine vétérinaire
11.
J Surg Res ; 299: 213-216, 2024 Jul.
Article de Anglais | MEDLINE | ID: mdl-38776576

RÉSUMÉ

INTRODUCTION: The American Urological Association guidelines recommend against the performance of ultrasound and other imaging modalities in the evaluation of patients with cryptorchidism before expert consultation. We aimed to examine our institutional experience with cryptorchidism and measure adherence to currently available guidelines. METHODS: An institutional review board-approved retrospective review of ultrasound utilization in the evaluation of patients with cryptorchidism was performed from June 1, 2016, to June 30, 2019, at a single tertiary level pediatric hospital. RESULTS: We identified 1796 patients evaluated in surgical clinics for cryptorchidism. Surgical intervention was performed in 75.2% (n = 1351) of the entire cohort. Ultrasound was performed in 42% (n = 754), most of which were ordered by referring physicians (91% n = 686). Of those who received an ultrasound, surgical intervention was performed in 78% (n = 588). Those 166 patients (22%) who did not undergo surgical intervention were referred with ultrasounds suggesting inguinal testes; however, all had normal physical examinations or mildly retractile testes at the time of consultation and were discharged from the outpatient clinic. There were 597 patients referred without an ultrasound, 81% (n = 483) were confirmed to have cryptorchidism at the time of specialist physical examination and underwent definitive surgical intervention, the remainder (19%, n = 114) were discharged from the outpatient clinics. CONCLUSIONS: Ultrasound evaluation of cryptorchidism continues despite high-quality evidence-based guidelines that recommend otherwise, as they should have little to no bearing on the surgeon's decision to operate or the type of operation. Instead, physical examination findings should guide surgical planning.


Sujet(s)
Cryptorchidie , Adhésion aux directives , Échographie , Humains , Cryptorchidie/imagerie diagnostique , Cryptorchidie/chirurgie , Mâle , Études rétrospectives , Échographie/normes , Enfant d'âge préscolaire , Nourrisson , Adhésion aux directives/statistiques et données numériques , Enfant , Guides de bonnes pratiques cliniques comme sujet , Testicule/imagerie diagnostique , Testicule/chirurgie , Orientation vers un spécialiste/normes , Orientation vers un spécialiste/statistiques et données numériques , Adolescent
12.
Pediatr Surg Int ; 40(1): 139, 2024 May 28.
Article de Anglais | MEDLINE | ID: mdl-38806810

RÉSUMÉ

PURPOSE: This study aimed to investigate the rate of re-ascent requiring re-operation after primary orchidopexy and to investigate eventual differences between the inguinal and scrotal approach as well as other potential predictors for re-ascent. METHODS: A retrospective cohort study of children treated for undescended testis (UDT) with orchidopexy between 2018 and 2022 was conducted. The primary outcome was re-ascent requiring re-operation, and the secondary outcome was atrophy rate. Independent variables were age, underlying conditions, side, surgical approach, operation time, bilaterality, congenital/ascended UDT, presence of scrotal hypoplasia, presence of a patent processus vaginalis, division of external oblique, and suture of the testis. Univariate and logistic regression were used to evaluate differences between groups and risk for re-ascent. RESULTS: A total of 662 testes in 554 patients were included. Re-operation occurred in 6% (7% with inguinal approach, 3% with scrotal approach, p = 0.04). Re-operation was associated with younger age, congenital UDT, and inguinal approach, but neither of these variables remained significant in multivariate analyses. Atrophy occurred in one testis. CONCLUSION: The rate of re-ascent was 6% and the atrophy rate was 0.15%. A larger study may find predictors for re-ascent but with very low absolute risk. The lower rate of re-ascent with the scrotal approach is probably due to selection bias.


Sujet(s)
Cryptorchidie , Orchidopexie , Réintervention , Humains , Mâle , Cryptorchidie/chirurgie , Orchidopexie/méthodes , Études rétrospectives , Réintervention/statistiques et données numériques , Nourrisson , Enfant d'âge préscolaire , Enfant , Testicule/chirurgie , Testicule/malformations , Résultat thérapeutique , Scrotum/chirurgie
13.
BMC Urol ; 24(1): 115, 2024 May 30.
Article de Anglais | MEDLINE | ID: mdl-38816716

RÉSUMÉ

BACKGROUND: Congenital inguinal hernia, hydrocele and undescended testis (UDT) are associated with patent processus vaginalis. The smooth muscles present in the processus vaginalis aid in the descent of the testis and undergo programmed cell death after testicular descent leading to obliteration. The persisting amount of smooth muscle in the processus vaginalis influences the clinical outcome as inguinal hernia, hydrocele or UDT. Therefore, a study was conducted to evaluate the processus vaginalis in these three conditions to observe the presence and phenotype of smooth muscle cells and the presence of myofibroblasts. MATERIALS AND METHODS: The processus vaginalis sacs in patients with inguinal hernia, hydrocele and UDT were examined using light microscopy for the presence and distribution of smooth muscle cells and immunohistochemical staining for vimentin, desmin, and α-smooth muscle actin (SMA) to identify the smooth muscle phenotype. Transmission electron microscopy was also performed in all the sacs to observe the presence of myofibroblasts. RESULTS: Seventy-eight specimens of processus vaginalis (from seventy-four patients), distributed as 47%, 27%, and 26% as inguinal hernia, hydrocele and UDT respectively, were included in the study. The sacs from inguinal hernia and hydrocele had significantly more presence of smooth muscles distributed as multiple smooth muscle bundles (p < 0.001). Desmin and SMA staining of smooth muscle cells was observed in significantly more sacs from hydrocele, followed by inguinal hernia and UDT (p < 0.001). The sacs from UDT had a significant presence of striated muscles (p = 0.028). The sacs from inguinal hernia had a significant presence of myofibroblasts, followed by hydrocele and UDT (p < 0.001) and this significantly correlated with the light microscopy and immunohistochemical features. The processus vaginalis sacs from four female patients did not differ statistically from the male inguinal hernia sacs in any of the above parameters. CONCLUSION: The processus vaginalis sacs in pediatric inguinal hernia, hydrocele and undescended testis differ in the presence, distribution and phenotype of smooth muscles and the presence of myofibroblasts. The clinical presentations in these entities reflect these differences.


Sujet(s)
Cryptorchidie , Hernie inguinale , Myocytes du muscle lisse , Myofibroblastes , Hydrocèle , Humains , Mâle , Hydrocèle/anatomopathologie , Hernie inguinale/anatomopathologie , Nourrisson , Cryptorchidie/anatomopathologie , Enfant d'âge préscolaire , Myocytes du muscle lisse/anatomopathologie , Enfant , Myofibroblastes/anatomopathologie , Nouveau-né
14.
Reprod Domest Anim ; 59(4): e14561, 2024 Apr.
Article de Anglais | MEDLINE | ID: mdl-38613192

RÉSUMÉ

Cryptorchidism affects spermatogenesis and testis development, often resulting in stallion subfertility/infertility. This study aims to identify the specific germ cells impacted by cryptorchism in stallions. In a previous study, we found that PGP9.5 and VASA are molecular markers expressed in different germ cells within stallions. Herein, we assessed the heat stress-induced response of spermatogonial stem cells (SSCs) in the seminiferous tubules (ST) of cryptorchid stallion testes (CST) and normal stallion testes (NST). This goal was accomplished by comparing PGP9.5 and VASA expression patterns through reverse transcription quantitative PCR and immunofluorescence assays. We also compared the cross-sectional ST area between groups. Six post-pubertal Thoroughbred unilateral cryptorchid stallions were used. The relative abundance of the mRNA transcripts of PGP9.5 and VASA was significantly upregulated in the NST group than in the CST group. Additionally, the cross-sectional ST area and localization of PGP9.5 and VASA in germ cells were significantly higher in the NST group than in the CST group. Regarding Leydig cells, PGP9.5 staining was observed in both groups. Spermatogonia, primary spermatocytes and secondary spermatocytes were immunostained with VASA in the NST group, while immunostaining was only observed in spermatogonia in the CST group. These results indicate long-term exposure to heat stress conditions, such as cryptorchidism, directly impacts germ cell proliferation and differentiation, leading to impaired spermatogenesis and compromised fertility in stallions.


Sujet(s)
Cryptorchidie , Maladies des chevaux , Infertilité , Animaux , Equus caballus , Mâle , Cryptorchidie/médecine vétérinaire , Études transversales , Canalicules séminifères , Spermatogonies , Infertilité/médecine vétérinaire
16.
Front Endocrinol (Lausanne) ; 15: 1343887, 2024.
Article de Anglais | MEDLINE | ID: mdl-38633762

RÉSUMÉ

Congenital cryptorchidism, also known as undescended testis, is the condition where one or both testes are not in place in the scrotum at birth and is one of the most common birth defects in boys. Temporal trends and geographic variation in the prevalence of cryptorchidism from 1% to 9% have been reported in prospective cohort studies. The testes develop in the abdominal cavity and descend to the scrotum in two phases, which should be completed by gestational week 35. Thus, the risk of cryptorchidism is higher in preterm boys. In many cases a spontaneous descent occurs during the first months of life during the surge of gonadotropins and testosterone. If not, the testis is usually brought down to the scrotum, typically by surgery, to increase future fertility chances and facilitate cancer surveillance. The increasing frequency of impaired semen quality and testicular cancer, with which cryptorchidism is associated, represents a concern for male reproductive health in general and a need to understand its risk factors. The risk of cryptorchidism is closely related to gestational factors (preterm birth, low birth weight and intrauterine growth restriction), and especially maternal smoking seems to be a risk factor. Evidence is accumulating that the increasing prevalence of cryptorchidism is also related to prenatal exposure to environmental chemicals, including endocrine disrupting compounds. This association has been corroborated in rodents and supported by ecological studies. Conducting human studies to assess the effect of endocrine disrupting chemicals and their interactions is, however, challenged by the widespread concomitant exposure of all humans to a wide range of chemicals, the combined effect of which and their interactions are highly complex.


Sujet(s)
Cryptorchidie , Perturbateurs endocriniens , Naissance prématurée , Tumeurs du testicule , Grossesse , Femelle , Humains , Mâle , Nouveau-né , Cryptorchidie/épidémiologie , Tumeurs du testicule/complications , Études prospectives , Analyse du sperme , Facteurs de risque
17.
Front Endocrinol (Lausanne) ; 15: 1312357, 2024.
Article de Anglais | MEDLINE | ID: mdl-38654924

RÉSUMÉ

RASopathies are syndromes caused by congenital defects in the Ras/mitogen-activated protein kinase (MAPK) pathway genes, with a population prevalence of 1 in 1,000. Patients are typically identified in childhood based on diverse characteristic features, including cryptorchidism (CR) in >50% of affected men. As CR predisposes to spermatogenic failure (SPGF; total sperm count per ejaculate 0-39 million), we hypothesized that men seeking infertility management include cases with undiagnosed RASopathies. Likely pathogenic or pathogenic (LP/P) variants in 22 RASopathy-linked genes were screened in 521 idiopathic SPGF patients (including 155 CR cases) and 323 normozoospermic controls using exome sequencing. All 844 men were recruited to the ESTonian ANDrology (ESTAND) cohort and underwent identical andrological phenotyping. RASopathy-specific variant interpretation guidelines were used for pathogenicity assessment. LP/P variants were identified in PTPN11 (two), SOS1 (three), SOS2 (one), LZTR1 (one), SPRED1 (one), NF1 (one), and MAP2K1 (one). The findings affected six of 155 cases with CR and SPGF, three of 366 men with SPGF only, and one (of 323) normozoospermic subfertile man. The subgroup "CR and SPGF" had over 13-fold enrichment of findings compared to controls (3.9% vs. 0.3%; Fisher's exact test, p = 5.5 × 10-3). All ESTAND subjects with LP/P variants in the Ras/MAPK pathway genes presented congenital genitourinary anomalies, skeletal and joint conditions, and other RASopathy-linked health concerns. Rare forms of malignancies (schwannomatosis and pancreatic and testicular cancer) were reported on four occasions. The Genetics of Male Infertility Initiative (GEMINI) cohort (1,416 SPGF cases and 317 fertile men) was used to validate the outcome. LP/P variants in PTPN11 (three), LZTR1 (three), and MRAS (one) were identified in six SPGF cases (including 4/31 GEMINI cases with CR) and one normozoospermic man. Undiagnosed RASopathies were detected in total for 17 ESTAND and GEMINI subjects, 15 SPGF patients (10 with CR), and two fertile men. Affected RASopathy genes showed high expression in spermatogenic and testicular somatic cells. In conclusion, congenital defects in the Ras/MAPK pathway genes represent a new congenital etiology of syndromic male infertility. Undiagnosed RASopathies were especially enriched among patients with a history of cryptorchidism. Given the relationship between RASopathies and other conditions, infertile men found to have this molecular diagnosis should be evaluated for known RASopathy-linked health concerns, including specific rare malignancies.


Sujet(s)
Infertilité masculine , Humains , Mâle , Infertilité masculine/génétique , Infertilité masculine/diagnostic , Adulte , Protéines G ras/génétique , Cryptorchidie/génétique , Cryptorchidie/complications , , Mutation
18.
Sci Rep ; 14(1): 9437, 2024 04 24.
Article de Anglais | MEDLINE | ID: mdl-38658594

RÉSUMÉ

This study aims to explore the optimal management strategy for pediatric vanishing testes syndrome (VTS) based on pathological characteristics. We retrospectively analyzed clinical data and pathological results of children with unilateral VTS who underwent surgical treatment at our center from July 2012 to July 2023. The children were categorized into the testicular excision group and testicular preservation group based on the surgical approach. Clinical characteristics and outcomes were compared between the two groups. Pathological examination results of excised testicular tissues were collected and analyzed, and long-term follow-up was conducted. A total of 368 children were included in this study. The age of the children at the time of surgery was 27 months (range, 6-156). Among them, 267 cases (72.6%) had VTS on the left side, and 101 cases (27.4%) on the right side. There were no statistically significant differences (P > 0.05) in age, affected side, contralateral testicular hypertrophy (CTH), testicular location, and preferred surgical incision between the testicular excision group (n = 336) and the testicular preservation group (n = 32). In the preservation group, two children experienced scrotal incision infections, showing a statistically significant difference compared to the excision group (P < 0.05). Pathological examination of excised tissues revealed fibrosis as the most common finding (79.5%), followed by vas deferens involvement (67%), epididymis involvement (40.5%), calcification (38.4%), and hemosiderin deposition (17.9%). Seminiferous tubules (SNT) was present in 24 cases (7.1%), germ cells (GC)in 15 cases (4.5%), and ectopic adrenal cortical tissue(EACT) in 1 case (0.3%). VTS belongs to a type of non-palpable testes (NPT) and requires surgical exploration. Considering the risk of scrotal incision infection after preserving atrophic testicular remnants and the unpredictable malignant potential, we recommend excision.


Sujet(s)
Testicule , Humains , Mâle , Études rétrospectives , Enfant d'âge préscolaire , Enfant , Testicule/chirurgie , Testicule/anatomopathologie , Nourrisson , Adolescent , Cryptorchidie/chirurgie , Cryptorchidie/diagnostic , Cryptorchidie/anatomopathologie
19.
J Assist Reprod Genet ; 41(5): 1307-1317, 2024 May.
Article de Anglais | MEDLINE | ID: mdl-38430325

RÉSUMÉ

PURPOSE: To identify the genetic cause of a cryptorchidism patient carrying a non-canonical splicing variant highlighted by SPCards platform in RXFP2 and to provide a comprehensive overview of RXFP2 variants with cryptorchidism correlation. METHODS: We identified a homozygous non-canonical splicing variant by whole-exome sequencing and Sanger sequencing in a case with cryptorchidism and non-obstructive azoospermia (NOA). As the pathogenicity of this non-canonical splicing variant remained unclear, we initially utilized the SPCards platform to predict its pathogenicity. Subsequently, we employed a minigene splicing assay to further evaluate the influence of the identified splicing variant. Microdissection testicular sperm extraction (micro-TESE) combined with intracytoplasmic sperm injection (ICSI) was performed. PubMed and Human Genome Variant Database (HGMD) were queried to search for RXFP2 variants. RESULTS: We identified a homozygous non-canonical splicing variant (NM_130806: c.1376-12A > G) in RXFP2, and confirmed this variant caused aberrant splicing of exons 15 and 16 of the RXFP2 gene: 11 bases were added in front of exon 16, leading to an abnormal transcript initiation and a frameshift. Fortunately, the patient successfully obtained his biological offspring through micro-TESE combined with ICSI. Four cryptorchidism-associated variants in RXFP2 from 90 patients with cryptorchidism were identified through a literature search in PubMed and HGMD, with different inheritance patterns. CONCLUSION: This is the first cryptorchidism case carrying a novel causative non-canonical splicing RXFP2 variant. The combined approach of micro-TESE and ICSI contributed to an optimal pregnancy outcome. Our literature review demonstrated that RXFP2 variants caused cryptorchidism in a recessive inheritance pattern, rather than a dominant pattern.


Sujet(s)
Cryptorchidie , Issue de la grossesse , Récepteurs couplés aux protéines G , Injections intracytoplasmiques de spermatozoïdes , Humains , Cryptorchidie/génétique , Cryptorchidie/anatomopathologie , Mâle , Injections intracytoplasmiques de spermatozoïdes/méthodes , Grossesse , Femelle , Récepteurs couplés aux protéines G/génétique , Issue de la grossesse/génétique , Adulte , Azoospermie/génétique , Azoospermie/anatomopathologie , Prélèvement de sperme , , Épissage des ARN/génétique
20.
J Pediatr Urol ; 20(3): 530-532, 2024 Jun.
Article de Anglais | MEDLINE | ID: mdl-38458920

RÉSUMÉ

Lymphatic-sparing Palomo procedure with intra-testicular injection of indocyanine green (ICG) has shown good results but the injection might harm the testes. This article describes the results of twelve consecutive patients where visualization and sparing were carried out successfully with para-testicular injection of ICG. Procedural details are reported thoroughly. Early experience shows convincing results, we believe that para-testicular injection leads to equally good visualization of testicular lymphatic vessels without the risk of testicular lesions. We will continue to use para-testicular injection and encourage others to do so to increase the amount of available data, allowing for evidence-based result in the future.


Sujet(s)
Agents colorants , Vert indocyanine , Laparoscopie , Vaisseaux lymphatiques , Testicule , Vert indocyanine/administration et posologie , Humains , Mâle , Agents colorants/administration et posologie , Laparoscopie/méthodes , Vaisseaux lymphatiques/chirurgie , Enfant , Injections/méthodes , Enfant d'âge préscolaire , Technique d'immunofluorescence/méthodes , Cryptorchidie/chirurgie , Traitements préservant les organes/méthodes , Nourrisson
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