Klinefelter Syndrome (KS) is characterized by an extreme heterogeneity in its clinical and genetic presentation. The relationship between clinical phenotype and genetic background has been partially disclosed; nevertheless, physicians are aware that several aspects concerning this issue are far to be fully understood. By improving our knowledge on the role of some genetic aspects as well as on the KS, patients’ interindividual differences in terms of health status will result in a better management of this chromosomal disease. The aim of this review is to provide an update on both genetic and clinical phenotype and their interrelationships.

The present data suggest that performing TESE/micro-TESE in subjects with KS results in SRRs of close to 50%, and then PRs and LBRs of close to 50%, with the results being independent of any clinical or biochemical parameters tested.

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As a surgical treatment of pheochromocytomas, laparoscopic adrenalectomy is an effective and safe approach, in selected cases even for PCCs >6 cm in diameter, although patients with such large tumors may have a higher conversion rate and more intraoperative hypertensive crises. Preoperative selective adrenergic blockade does not prevent intraoperative hypertensive crises, but by facilitating the pharmacological management of the perioperative haemodynamic instability, may avoid the onset of major adverse cardiovascular complications.