Testicular Microlithiasis

2021 ◽  
Author(s):  
Abtin Jafroodifar ◽  
Sahir Quraeshi, MD ◽  
Anand Majmudar, MD
Keyword(s):  
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

Testicular microlithiasis — a possibly premalignant condition

1998 ◽  
Vol 39 (5) ◽  
pp. 583-586 ◽  
Author(s):  
A. Berger ◽  
K. Brabrand
Keyword(s):  
Testicular Microlithiasis ◽  
Premalignant Condition

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

Seminal profile of subjects with testicular microlithiasis and testicular calcifications

2005 ◽  
Vol 84 (1) ◽  
pp. 243-245 ◽  
Author(s):  
Fernando Mazzilli ◽  
Michele Delfino ◽  
Norina Imbrogno ◽  
Jlenia Elia ◽  
Vincenzo Spinosa ◽  
...  
Keyword(s):  
Testicular Microlithiasis

Development of a Primary Testicular Tumour during Surveillance for Testicular Microlithiasis

Ultrasound ◽  
2009 ◽  
Vol 17 (3) ◽  
pp. 156-158 ◽  
Author(s):  
Iheoma Amaechi ◽  
Mohammed Z Khan ◽  
Paul S Sidhu
Keyword(s):  
Risk Factors ◽  
Management Strategy ◽  
Testicular Tumour ◽  
Surveillance Program ◽  
Testicular Microlithiasis

We describe a case of the development of a testicular tumour in a patient with unilateral limited testicular microlithiasis after five years on a follow-up surveillance program. We discuss the risk factors for the development of a testicular tumour, review the literature, and suggest a management strategy for follow-up of patients with testicular microlithiasis.

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