Prevalence of Testicular Microlithiasis in Males Aged 0 to 18 Years Referred for Scrotal Sonography

Joery Goede; Hadassa Hofman; Alice Wagenvoort; Frank Pierik; Wilfried Hack

doi:10.5812/numonthly.1898

Prevalence of Testicular Microlithiasis in Males Aged 0 to 18 Years Referred for Scrotal Sonography

Nephro-Urology Monthly ◽

10.5812/numonthly.1898 ◽

2011 ◽

Vol 4 (1) ◽

pp. 377-3

Author(s):

Joery Goede ◽

Hadassa Hofman ◽

Alice Wagenvoort ◽

Frank Pierik ◽

Wilfried Hack

Keyword(s):

Testicular Microlithiasis ◽

Scrotal Sonography

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Prevalence of Testicular Microlithiasis in Males Aged 0 to 18 Years Referred for Scrotal Sonography

Nephro-Urology Monthly ◽

10.5812/kowsar.22517006.1898 ◽

2011 ◽

Vol 4 (1) ◽

pp. 377-380

Author(s):

Joery Goede ◽

Hadassa A Hofman ◽

Alice M Wagenvoort ◽

Frank H Pierik ◽

Wilfried W.M Hack

Keyword(s):

Testicular Microlithiasis ◽

Scrotal Sonography

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Multiple lentigines and testicular microlithiasis

Clinical and Experimental Dermatology ◽

10.1046/j.1365-2230.2000.00730-2.x ◽

2000 ◽

Vol 25 (8) ◽

pp. 655-656 ◽

Cited By ~ 1

Author(s):

J. Leman ◽

J.P. Brush ◽

M.J. Tidman

Keyword(s):

Testicular Microlithiasis ◽

Multiple Lentigines

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Testicular microlithiasis — a possibly premalignant condition

Acta Radiologica ◽

10.3109/02841859809172231 ◽

1998 ◽

Vol 39 (5) ◽

pp. 583-586 ◽

Cited By ~ 1

Author(s):

A. Berger ◽

K. Brabrand

Keyword(s):

Testicular Microlithiasis ◽

Premalignant Condition

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Faculty Opinions recommendation of Implications of incidental finding of testicular microlithiasis in paediatric patients.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.12909963.14199065 ◽

2011 ◽

Author(s):

Margit Fisch ◽

Maike Beuke

Keyword(s):

Incidental Finding ◽

Testicular Microlithiasis ◽

Paediatric Patients

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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

Hormone Research in Paediatrics ◽

10.1159/000512372 ◽

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.

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