Klinefelter's syndrome associated with testicular microlithiasis and mediastinal germ‐cell neoplasm

AIzenstein, Robert I.; Hibbeln, John F.; Sagireddy, Babureddy; Wilbur, Andrew C.; O'Neil, Howard K.

doi:10.1002/(sici)1097-0096(199711/12)25:9<508::aid-jcu9>3.3.co;2-o

Cited by 8 publications

(6 citation statements)

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“…We observed similarities between the case reports and the KS‐GCT cases in the current study. Among KS males aged 14 to 19 years in the literature, tumors were nearly exclusively mediastinal, which we also observed. Tumors in the current study predominantly were of mixed histologic subtype, whereas teratomas were more commonly reported among the case reports, which could be due to the small sample size of KS‐GCTs in the current study or unpublished case reports of KS‐GCTs.…”

Section: Discussionmentioning

confidence: 51%

Klinefelter syndrome in males with germ cell tumors: A report from the Children's Oncology Group

Williams

Pankratz

Lane

et al. 2018

Cancer

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Background Males with Klinefelter syndrome (KS; 47, XXY) may be more likely to develop germ cell tumors (GCTs), particularly mediastinal GCTs. There are no reports characterizing the prevalence of KS among male GCT cases. Methods We used array genotyping data from a Children’s Oncology Group epidemiology study to estimate the prevalence of KS in males with GCTs (n=433; aged 0–19 years). Using Fisher’s exact tests, we examined differences in age at diagnosis, race/ethnicity, tumor location and histology, and a number of birth characteristics between KS-GCT cases and GCT cases without chromosomal abnormalities. Using publicly available data, we estimated the 1-year risk, risk ratio (RR), and corresponding 95% confidence interval (95% CI) of GCTs among KS cases. Results Based on analysis of array genotyping data, 3% (n=13) of male GCT cases had KS. The additional X chromosome was of maternal origin in7/13 cases. Of these 13 KS cases, 5/9 (56%) KS-GCT cases with parental questionnaire data reported a diagnosis of KS. We did not observe significant differences in patient or birth characteristics between KS-GCT and non-KS-GCT cases. KS-GCT cases were significantly more likely to be diagnosed with mediastinal tumors than non-KS-GCT cases (p<0.01). We estimated the risk of developing a GCT among males with KS to be 0.00025, or 1/4,000 (RR: 18.8; 95% CI: 11.7, 30.0). Conclusions Compared to males without chromosomal abnormalities, KS males are more likely to be diagnosed with a mediastinal GCT. The presence of KS should be considered in males with a diagnosis of mediastinal GCT.

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Section: Discussionmentioning

confidence: 51%

Klinefelter syndrome in males with germ cell tumors: A report from the Children's Oncology Group

Williams

Pankratz

Lane

et al. 2018

Cancer

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“…There are reports of TM patients gaining fertility and developing various testicular tumors [7,14,15]. One of our cases became fertile after his accompanying varicocele problem was solved.…”

Section: Discussionmentioning

confidence: 70%

Effects of testicular microlithiasis on Doppler parameters: report of three cases

et al. 2002

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“…Risk factors for testicular cancer such as cryptorchidism (15–20), family history (21–24), and infertility (17,25–27) have also been separately associated with TML. Additionally, TML has been associated with other risk factors such as ethnicity (3,28), socioeconomic (28), and genetic disorders (29–32).…”

Section: Introductionmentioning

confidence: 99%

Association between risk factors and testicular microlithiasis

Pedersen

Møller

Rafaelsen

et al. 2019

Acta Radiologica Open

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BackgroundTesticular microlithiasis and its clinical significance are not fully understood. Testicular microlithiasis and risk factors have been associated with testicular cancer. The role of testicular microlithiasis is investigated.PurposeTo investigate the association between testicular microlithiasis and socioeconomic and other pre-diagnostic factors.Material and MethodsAll men who had a scrotal ultrasound examination at the Department of Radiology, Vejle Hospital, during 2001–2013 were included. They were categorized as patients with and without testicular microlithiasis and compared with pre-diagnostic data from a nationwide registry. A total of 2404 men (283 [11.8%] with testicular microlithiasis and 2121 [88.2%] without testicular microlithiasis) were included. The association between testicular microlithiasis and pre-diagnostic conditions was investigated with logistic regression.ResultsOverall, we found no statistically significant differences in demographics, socioeconomic characteristics, or testicular diseases in men with and without testicular microlithiasis. Men with testicular microlithiasis had more often been treated for infertility (odds ratio [OR] 2.09, 95% confidence interval [CI] 0.84–5.24) and testicular torsion (OR 1.58, 95% CI 0.34–7.36) compared to men without testicular microlithiasis. We found no association between sexually transmitted diseases and testicular microlithiasis.ConclusionTreatment for infertility and torsion was non-significantly associated with testicular microlithiasis and no other association was found. These data do not suggest early exposure is related to testicular microlithiasis.

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Klinefelter's syndrome associated with testicular microlithiasis and mediastinal germ‐cell neoplasm

Cited by 8 publications

References 0 publications

Klinefelter syndrome in males with germ cell tumors: A report from the Children's Oncology Group

Klinefelter syndrome in males with germ cell tumors: A report from the Children's Oncology Group

Effects of testicular microlithiasis on Doppler parameters: report of three cases

Association between risk factors and testicular microlithiasis

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