Jump to main content
US EPA
United States Environmental Protection Agency
Search
Search
Main menu
Environmental Topics
Laws & Regulations
About EPA
Health & Environmental Research Online (HERO)
Contact Us
Print
Feedback
Export to File
Search:
This record has one attached file:
Add More Files
Attach File(s):
Display Name for File*:
Save
Citation
Tags
HERO ID
4241573
Reference Type
Journal Article
Title
Three cases of Klinefelter's syndrome with unilateral absence of vas deferens
Author(s)
Akinsal, EC; Baydilli, N; Imamoglu, H; Ekmekcioglu, O
Year
2017
Is Peer Reviewed?
Yes
Journal
Andrologia
ISSN:
0303-4569
EISSN:
1439-0272
Volume
49
Issue
9
Language
English
PMID
28685873
DOI
10.1111/and.12844
Web of Science Id
WOS:000412838200019
Abstract
Genital abnormalities such as congenital uni/bilateral absence of the vas deferens are very rare in Klinefelter's syndrome. Here, we report three cases of Klinefelter's syndrome with unilateral absence of the vas deferens. All cases had small testicles, and unilateral vas deferentia were not palpable. Hormonal evaluations revealed hypergonadotropism. One case had elevated prolactin level, and pituitary adenoma was detected by magnetic resonance imaging. All cases were diagnosed as Klinefelter's syndrome (one of them had mosaicism) cytogenetically, and some CFTR gene mutations were detected. To our knowledge, this is the first case series of both conditions existing simultaneously.
Tags
IRIS
•
Arsenic Hazard ID
Lit Search Updates Oct 2015 to Jan 2019
WOS
2.5 Update 2015-2019: Title & Abstract Screening
Not relevant to PECO
Home
Learn about HERO
Using HERO
Search HERO
Projects in HERO
Risk Assessment
Transparency & Integrity