Klinefelter’s Syndrome, From a Disabling Condition to a Variant of Normalcy

Klinefelter syndrome (KS), both mosaic and non-mosaic forms, is the most frequent genetic condition with reproductive consequences that can be diagnosed initially or in childhood, adolescence, and adulthood. In relation to its great clinical variability, in many cases it even remains undiagnosed. Only a few decades ago, this condition was strongly associated with sterility, but more recently, parenthood options for KS have broadened significantly. Despite in recent decades it has become obvious that such a goal is highly unlikely with traditional therapy, fertility is often possible using assisted fertility techniques. Furthermore, a newer understanding of the syndrome instructs us to early recognize the affected patients and when to normalize the hormone imbalance, preventing health problems and improving quality of life. The impact of a comprehensive approach to KS brings to consider this condition as a variant of normal. However, additional conditions that may be associated with the syndrome such as obesity, reduced bone density, sexual or psychomotor abnormalities, and developmental dyspraxia represent concerns that induced to refuse this normal variant concept in the past. The clinical andrologist has a key role in the diagnosis, management, treatment, and follow-up of KS. However, other specialists such as pediatricians, geneticists, psychiatrists, endocrinologists, psychologists, and speech therapists have central roles in particular conditions. In the current international literature, a book considering all the clinical aspects of KS is missing. Therefore, the Klinefelter Italian Group (KING) of the Italian Society of Andrology and Sexual Medicine (SIAMS), supported by the Springer books, asked to prominent Italian experts of the main specialties committed in KS, to develop a textbook using most recent available evidence. Editors, Andrea Garolla, coordinator of KING, and Giovanni Corona, president of SIAMS, included all the topics featured by experts in KS in this book. They considered epidemiology, counseling to family and patients, genetic and epigenetic factors, developmental problems, psychological features, fertility problems and preservation, sexual function, and possible comorbidities such as osteoporosis, obesity, dyslipidemia, altered glucose metabolism, thyroid dysfunction, cancer risk, cardiovascular problems, and strategies of management and treatment from birth to adulthood. Finally, they strongly wanted the presence of KS patients in the book and included at the start a poetry depicting the feelings of an affected subject. Special thanks to all the authors and collaborators for their strong efforts and fruitful collaboration and for harmoniously integrating their competence.