ArticleArchives of disease in childhood2002
Urogenital abnormalities in male children with cystic fibrosis.
Article in Archives of disease in childhood, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 44 citations in OpenAlex.
- Male reproductive phenotype in cystic fibrosis: comparison of existing animal models.Lab animal · 2026Review
- Case Series on the Combined Therapy with Elexacaftor/Tezacaftor/Ivacaftor During Pregnancy in Women with Severe Cystic Fibrosis: A Retrospective Report from an Italian Centre.Journal of clinical medicine · 2025Article
- Cystic Fibrosis in an Adolescent: A "Miranda Warning" Against Blaming TB-A Case-Based Scholarly Update.Adolescent health, medicine and therapeutics · 2024Article
- Epididymal cyst in children.European journal of pediatrics · 2021Review
- Genetics ofTranslational andrology and urology · 2021Review
- External and Genetic Conditions Determining Male Infertility.International journal of molecular sciences · 2020Review
- Non-obstructive vas deferens and epididymis loss in cystic fibrosis rats.Mechanisms of development · 2019Article
- CFTR interacts with ZO-1 to regulate tight junction assembly and epithelial differentiation through the ZONAB pathway.Journal of cell science · 2014Article
- Exon 10 CFTR gene mutation in male infertility.Iranian journal of reproductive medicine · 2012Article
- Swine models of cystic fibrosis reveal male reproductive tract phenotype at birth.Biology of reproduction · 2011Article
- Cystic dysplasia of the epididymis: a disorder of mesonephric differentiation associated with renal maldevelopment.Virchows Archiv : an international journal of pathology · 2010Article
- CFTR chloride channel in the apical compartments: spatiotemporal coupling to its interacting partners.Integrative biology : quantitative biosciences from nano to macro · 2010Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital bilateral absence of the vas deferens (CBAVD) is presumed to occur prenatally and is present in over 99% of adult males with cystic fibrosis (CF).
aimsTo describe ultrasonic features in male children with CF. We aimed to describe urogenital anomalies, comparing pancreatic sufficient and insufficient CF patients.
methodsPelvic and scrotal ultrasonography were performed in 12 boys with CF aged 2-12 years and 16 age matched healthy controls.
resultsNine patients had pancreatic insufficiency (PI): seven had two severe mutations and two had unknown mutations. Three boys were pancreatic sufficient (PS), two with splicing mutations (5T and 3849+10kb C-T respectively) and borderline sweat tests. Seminal vesicles were visualised in 5/12 patients and 8/16 controls, compared to non-visualisation reported in all adults with CBAVD. Testicular microlithiasis was found in 4/18 PI, 0/6 PS, and 0/32 control testes, compared to 0.6-1.4% in healthy males and 15% in CF adults; 7/18 PI, 4/6 PS, and 0/32 control testes were smaller than predicted for age. The epididymal head was non-homogeneous with cysts, hypo-, or hyper-echogenicity in 5/18 PI, 1/6 PS, and 0/32 control testes.
conclusionsGenital abnormalities may occur early in CF, but are less common than described in adults. They are found more often in pancreatic insufficient than in pancreatic sufficient CF patients. However, a positive finding, if present, may aid in the diagnosis of the latter. A larger longitudinal study is recommended to better define the onset and progression of urogenital abnormalities.
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