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Normal testicular physiology results from the integrated function of the tubular and interstitial compartments. Serum markers of interstitial tissue function are testosterone and insulin‐like factor 3 (INSL3), whereas tubular function can be assessed by sperm count, morphology and motility, and serum anti‐Müllerian hormone (AMH) and inhibin B. The classical definition of male hypogonadism refers to...
Male patients with an extra sex chromosome or autosome are expected to present primary hypogonadism at puberty owing to meiotic germ‐cell failure. Scarce information is available on trisomy 21, a frequent autosomal aneuploidy. Our objective was to assess whether trisomy 21 presents with pubertal‐onset, germ‐cell specific, primary hypogonadism in males, or whether the hypogonadism is established earlier...
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