Klinefelter syndrome and fertility preservation

Abstract

In this mini-review pathophysiology, symptoms, diagnosis and management of Klinefelter syndrome (KS) patients are discussed, including fertility preservation. The real complete spectrum of KS phenotypes remain still to be fully elucidated. Hypogonadism and infertility are almost invariably present. Almost all organs of KS patients are associated with increased risk of morbidity and mortality. Treatment is multidisciplinary for associated speech, language, learning and neurocognitive difficulties. Pharmacologic treatment is by topical or i.m administration of testosterone replacement therapy (TTR).The effect of TTR on compromised spermatogenesis is not well known. In this millennium fertility preservation by testes sperm extraction (TESE) via biopsies and fathering by subsequent intra cytoplasmc sperm injection (ICIS) has become possible with some 60% success rate in small studies. However, offspring data of KS patients are lacking and many knowledge gaps still exist.