Objective: Introduction: Topicability of this problem is caused by well-spread of cryptorchism among children: from 2-3% at newborn boys in UK to 10-12% of newborn boys in the Post Soviet Union countries. Degenerative processes, occured in testicle could lead to the development of eunuchoidism, feminization, gynecomastia, infantilism. In the future, changes in seminiferous epithelium contribute to the development of male infertility, impotence and malignant tumors - seminoma, teratoblastoma.
Patients And Methods: The aim: To improve diagnosis for abdominal forms of cryptorchism at the children through implementation innovative methods in practice (laparoscopic diagnostics). Materials and methods: For a period from 2014 to 2017 years were carried out 43 diagnostic laparoscopy of non palpated testicle syndrome. By age children were distributed into the following groups: up to 1 year -18 children, 1-2 years - 25 children.
Results: Results: Analyzing results of our research there is no doubt that laparoscopy is one of the most reliable methods of diagnosis abdominal cryptorchism in children. This method allows both to determine location of a damaged testicle in the abdominal cavity, but also to assess its condition, developed further tactics of treatment.
Conclusion: Conclusions: Laparoscopic diagnosis abdominal forms of cryptorchism is the most reliable method in a comparison with computed tomography, ultrasound, radioisotope studies. Procedure of laparoscopic diagnosis could show not only location and condition of the testis, blood vessels and ductus deferens, but help to develop the further treatment tactics.
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J Investig Med High Impact Case Rep
January 2025
Faculty of Medicine and Health Sciences, Palestine Polytechnic University, Hebron, Palestine.
Rafiq syndrome, MAN1B1-CDG, was described in 2010 and associated with genetic mutation in MAN1B1 gene in 2011. The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypotonia. The syndrome belongs to a group of metabolic disorders called Congenital Glycosylation Disorders (CGD).
View Article and Find Full Text PDFFront Pediatr
January 2025
Pathology Department, Anhui Provincial Children's Hospital, Hefei, Anhui, China.
Introduction: Cryptorchidism can damage cells in the cryptorchid testes due to elevated local temperatures, potentially impacting the fertility of the child in adulthood. Research indicates that vitamin D enhances sperm quality in adult males. This study aimed to explore whether vitamin D inhibits NLRP3 activation, thus helping to mitigate heat stress damage to testicular spermatogenic and Sertoli cells.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Paediatrics, Bahrain Defence Force Royal Medical Services, Riffa, Bahrain.
This case report provides details of the first documented case of pituitary stalk interruption syndrome (PSIS) with coexistent focal cortical dysplasia (FCD) in a young boy. The child's initial presentation was an afebrile, generalised tonic-clonic seizure associated with postictal drowsiness. During his first episode, the physical examination revealed a short, obese child with a micropenis and left cryptorchidism.
View Article and Find Full Text PDFCell Commun Signal
January 2025
Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Background: Cryptorchidism is the absence of one or both testicles in the scrotum at birth, being a risk factor for testis cancer and infertility. The most effective method to treat cryptorchidism is orchiopexy, followed by human chorionic gonadotropin (hCG) therapy; however, a portion of treated patients do not show a significant improvement in testis volume and vascularization after adjuvant therapy.
Methods: In this study, we generated an in vitro model to predict the patient response to hCG by cultivating and treating primary cells derived from five cryptorchid patients' biopsies of gubernaculum testis, the ligament that connects the testicle to the scrotum.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2025
Department of Pediatric Neurology, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Objective: To explore the clinical and genetic characteristics of two children diagnosed with two rare genetic diseases simultaneously.
Methods: Two children with comorbidity of two genetic diseases due to dual genetic mutations diagnosed at the Third Affiliated Hospital of Zhengzhou University respectively in May 2022 and March 2023 were selected as the study subjects. Clinical and genetic data of the two children were retrospectively analyzed.
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