Testis ultrasound in Klinefelter syndrome infertile men: making the diagnosis and avoiding inappropriate management
To compare the testicular Color Doppler ultrasound (US), hormone levels, and histological results from 67 infertile men with Klinefelter syndrome (KS), vs. 66 non-KS non-obstructive azoospermic men.
Scrotal US images were collected from 67 infertile KS and 66 non-obstructive, non-KS azoospermic men. The testis volume, echotexture, vascularity, and microliths were evaluated and graded. We defined the following echo pattern alteration groups: normal, striated, coarse, and measurable nodules. The vascularization was classified as low, normal, moderate, or strong. Testosterone, follicle-stimulating hormone, luteinizing hormone, and inhibin B levels were determined. Large testicular nodules were removed. A testicular biopsy and sperm extraction was performed in 18 of the KS, and all of the 66 non-KS men.
The mean testis volume was low in the KS, compared to the non-KS patients: i.e., 2 vs. 8 mL (P < 0.0001). The distributions in the echotexture groups differed markedly, with coarse or nodular patterns in the KS men, and normal/striated patterns in the control patients (P < 0.0001). The vascularization and microlithiasis grades were higher in the KS patients than the control men (P < 0.0001 and P < 0.001, respectively). All of the nodules removed from the KS patients were benign Leydig cell tumors, and all of the biopsies showed marked Leydig cell hyperplasia, with spermatogenesis in only two patients. The non-KS biopsies were predominantly Sertoli cell-only syndrome.
Small testes, with a coarse or nodular echotexture, hypervascularization, and microlithiasis are associated with KS. The KS nodules were benign Leydig cell tumors/hyperplasias.
KeywordsMale infertility Testis tumors Klinefelter syndrome Color Doppler ultrasound Leydig cell tumors Hypogonadism
We thank Valentine Sallerin, Florian Maxwell and Sophie Domingues for language editing of the paper, Beatrice Ducot for statistical analysis advices. We thank Bénédicte Renoir, Guillaume Cluzel, Ludivine Glas, and Amel Fékir for their daily work with infertile men. We thank Thomas Bessede for his advices.
Compliance with ethical standards
Conflict of interest
Nothing to disclose.
Human and Animal Rights Statement
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
For this type of study formal consent is not required.
Video 1 Color Doppler KS patient testis findings: hypoechoic nodules and hypervascularization (AVI 3279 kb)
Video 2 Example of a nodular hyperechoic hilum (KS patient) (AVI 2811 kb)
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