The Odds of Developing Testicular Neoplasms in Adults Who Have Testicular Microlithiasis Compared to Those Who Do Not

2020 ◽  
Vol 7 (4) ◽  
pp. 25-30
Author(s):  
Katib , Atif A. ◽  
Khairo , Mutaz A. ◽  
Alem , Sarah K.
Keyword(s):  
Testicular Neoplasms ◽  
Testicular Microlithiasis

Multiple lentigines and testicular microlithiasis

2000 ◽  
Vol 25 (8) ◽  
pp. 655-656 ◽  
Author(s):  
J. Leman ◽  
J.P. Brush ◽  
M.J. Tidman
Keyword(s):  
Testicular Microlithiasis ◽  
Multiple Lentigines

Isolated 17, 20 Lyase Deficiency Secondary to a Novel CYB5A Variant: Comparison of Steroid Metabolomic Findings with Published Cases Provides Diagnostic Guidelines and Greater Insight into Its Biological Role

2020 ◽  
Vol 93 (7-8) ◽  
pp. 483-496
Author(s):  
Meera Shaunak ◽  
Norman F. Taylor ◽  
David Hunt ◽  
Justin H. Davies
Keyword(s):  
Mass Spectrometry ◽  
Ambiguous Genitalia ◽  
Relative Increase ◽  
Testicular Microlithiasis ◽  
Lyase Deficiency ◽  
Chain Cleavage ◽  
Steroid Profiles ◽  
Steroid Analysis ◽  
17 Hydroxyprogesterone ◽  
Urine Steroid

Objective: The objective of this study was to report CYB5A deficiency, to discuss the contribution of steroid metabolomics to diagnosis and interpretation, and to highlight the presence of testicular microlithiasis. Methods: Two siblings with ambiguous genitalia at birth were later found to carry novel CYB5A variants, with resulting isolated 17, 20 lyase deficiency. We compared urine steroid data obtained between birth and adulthood with that from other cases. Results: Neonatal urine steroid profiles show a relative increase of 16-hydroxylated pregnenolone metabolites. Thereafter, there are no distinguishing features until puberty, when sex steroid deficiency drives gonadotrophin production, resulting in marked increases of 17-hydroxyprogesterone metabolites derived from the gonads. This excess may be revealed pre-pubertally by gonadotrophin stimulation testing. Novel findings are first, a considerable capacity for DHEA synthesis in the neonatal period compared to childhood and adulthood, suggesting that DHEAS production is much less dependent on CYB5A at birth; second, no consistent change in “backdoor pathway” intermediates; third, side chain cleavage of cortisol is largely unaffected, supporting the existence of a different lyase not dependent on CYB5A; fourth, increased 17-hydroxyprogesterone metabolites and very low androgen metabolites are diagnostic post-pubertally. Conclusion: This is the fourth disease-causing variant in CYB5A in isolated 17, 20 lyase deficiency and the first associated with testicular microlithiasis. Establishing a biochemical diagnosis pre-pubertally should now be possible using urine steroid profiling, supported by synacthen and gonadotrophin stimulation testing. We recommend liquid chromatography-mass spectrometry/mass spectrometry rather than immunoassay for serum steroid analysis, early methaemoglobin measurement and surveillance should testicular microlithiasis be detected.

Testicular Microlithiasis: US Follow-up

Radiology ◽  
2001 ◽  
Vol 218 (2) ◽  
pp. 359-363 ◽  
Author(s):  
Harold F. Bennett ◽  
William D. Middleton ◽  
Arnold D. Bullock ◽  
Sharlene A. Teefey
Keyword(s):  
Testicular Microlithiasis

Testicular microlithiasis: what does it mean clinically?

2007 ◽  
Vol 99 (1) ◽  
pp. 157-160 ◽  
Author(s):  
Haitham Dagash ◽  
Ewen A. MacKinnon
Keyword(s):  
Testicular Microlithiasis

Testicular microlithiasis is worrisome in a selected patient population

2008 ◽  
Vol 18 (4) ◽  
pp. 436 ◽  
Author(s):  
Niels J van Casteren ◽  
Gert R Dohle ◽  
Leendert HJ Looijenga
Keyword(s):  
Patient Population ◽  
Testicular Microlithiasis
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