ACI-rats are considered as a model for studying urogenital abnormalities. In order to recognise cytogenetic changes related to these abnormalities 50 male ACI/Seg rats were examined by means of gross macroscopic, histological, and karyotypical investigations. In six of the examined animals (12%) unilateral agenesis of the kidney and ipsilateral hypoplasia of the testes and seminal vesicles were observed. Isochromosome 8 and trisomy 8 (i8, +8) were observed in 26.5% of karyotypes from the animals with kidney agenesis. Chromosome heteromorphisms such as 1p+, 3p+, 11p+, 12p+ were found in animals with and without apparent pathology. Because of the similarity between the phenotypical changes found in ACI-rats and in patients with familial renal agenesis (Potter's syndrome) and hereditary renal agenesis and aplasia (HRA), rat and human chromosomes associated with manifested renal malformations were examined by comparative cytogenetics and gene mapping.
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Zinner syndrome: A mesonephric duct anomaly with renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction.
Med J Armed Forces India
December 2024
Assistant Professor (Urology), Command Hospital, Central Command, Lucknow, India.
Anomalies of the mesonephric duct are associated with a combination of renal agenesis/dysgenesis, ejaculatory duct obstruction, and seminal vesical cyst, called Zinner syndrome. We present a case of this rare syndrome in a young male patient, who initially presented with urinary symptoms. The relevant embryology and diagnostic modalities are discussed.
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Pediatrics
December 2024
Department of Paediatric Surgery & Urology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.
We present the first description of a family in which 2 siblings show alternative expression of CRKL gene deletion as the phenotypes of Zinner (OSVIRA, obstructed seminal vesicle and ipsilateral renal agenesis) and OHVIRA (obstructed hemivagina with an ipsilateral renal anomaly) syndromes. The male infant with Zinner syndrome and his sister aged 5 years with OHVIRA syndrome both have a paternally inherited 703-kb deletion at chromosome 22q11.21 that includes CRKL.
View Article and Find Full Text PDFAssessing masked hypertension and ambulatory arterial stiffness index in children congenital kidney malformations.
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Department of Pediatric Nephrology, Ulus Maternity and Child Health and Diseases Training and Research Hospital, Dr. Sami, Ankara, Turkey.
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Background: Complete bicorporeal uterus, double cervix and obstructive longitudinal vaginal septum (classified as U3bC2V2 according to ESHRE/ESGE classification) is a rare congenital anomaly of the genital tract. This condition is typically associated with ipsilateral renal agenesis and is known as Herlyn-Werner-Wunderlich syndrome or OHVIRA (Obstructed HemiVagina and Ipsilateral Renal Anomaly) syndrome. The primary symptoms include dysmenorrhea and pelvic pain, which usually manifest after menarche due to haematocolpos in the obstructed hemivagina.
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Urol Case Rep
January 2025
Department of Radiodiagnosis, Kempegowda Institute of Medical Sciences Hospital and Research Centre, Rajiv Gandhi University of Health Sciences, Bangalore, Karnataka, 560004, India.
Zinner syndrome is a rare congenital malformation of the Wolffian duct with seminal vesicle cyst, ipsilateral renal agenesis and ejaculatory duct obstruction, seen in less than 0.002 % of the male population. An increased awareness among clinicians, urologists, and radiologists is essential, as early diagnosis and management can impact fertility outcomes.
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