Infertility considerations in klinefelter syndrome: From origin to management

• Published in: Baillière's best practice & research. Clinical endocrinology & metabolism Vol. 34; no. 6; p. 101480
• Main Authors: Deebel, Nicholas A., Bradshaw, Aaron W., Sadri-Ardekani, Hooman
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Ltd 01.12.2020
• Subjects: fertilization in vitro; hormone replacement therapy; Humans; Infant, Newborn; Infertility, Male - diagnosis; Infertility, Male - etiology; Infertility, Male - genetics; Infertility, Male - therapy; klinefelter syndrome; Klinefelter Syndrome - complications; Klinefelter Syndrome - diagnosis; Klinefelter Syndrome - genetics; Klinefelter Syndrome - therapy; Male; Neonatal Screening; Sperm Retrieval; spermatogonia; Spermatozoa - abnormalities; Spermatozoa - metabolism; Testis - metabolism; Testis - pathology; sperm retrieval; hormone replacement therapy; spermatogonia; fertilization in vitro; klinefelter syndrome
• ISSN: 1521-690X; 1878-1594
• DOI: 10.1016/j.beem.2020.101480

Klinefelter syndrome (KS) is defined as the presence of one or more extra “X” chromosome in a male patient. It affects approximately 1 in 600 newborn males and the most common chromosomal abnormality, leading to male hypogonadism and infertility. There is a lack of data supporting best practices for KS patients’ care. In this paper we review controversial issues in KS research ranging from mechanisms of variation in KS phenotype to abnormalities resulting in reduced sperm production to successful sperm retrieval disparities after testicular sperm extraction (TESE). Translation to live birth and offspring health is also examined. Finally, medical therapies used to optimize the hormonal status and chances of fertility in KS patients are reviewed. We will also discuss the experimental spermatogonial stem cell (SSC) treatments, which are considered the future for TESE negative patients.