Clinical characteristics of men with non-mosaic Klinefelter syndrome in northeastern China: implications for genetic counseling

Abstract

ABSTRACT. Klinefelter syndrome (KS) is the most common genetic cause of male infertility. Widespread development in assisted reproductive technology has provided non-mosaic KS patients with the opportunity of having biological children. Testosterone replacement therapy and micro-dissection testicular sperm extraction are effective sperm retrieval techniques for KS patients. Despite the success of sperm retrieval and intracytoplasmic sperm injection (ICSI), some areas of early aggressive hormonal spermatogenesis and appropriate management of KS remain controversial. Androgenotherapy, a common treatment for KS, carries a risk of decreasing focal spermatogenesis by lowering the gonadotropin content. Inadequately treated hypogonadism increases psychosocial morbidity in KS patients. Preventive care must be provided from the time of diagnosis, preferentially through a multidisciplinary approach. This indicates the need for improved genetic counseling of KS patients. The aim of this study was to report the prevalence of non-mosaic KS in a Chinese infertile male population. The rate of early diagnosis was lower in KS patients; most of these were diagnosed after rising concerns of reproductive capacity. The mean age of patients with sperm or germ cells was significantly lower, while the semen volume of these patients was significantly higher. However, the semen volume was negatively correlated with the age and ratio of luteinizing hormone/testosterone content in KS patients. Therefore, genetic counseling of KS patients should focus on early diagnosis and timely treatment, in addition to improving the quality of life of all KS patients. The use of testosterone replacement therapy and/ or micro-dissection testicular sperm extraction should be preferentially considered for fertility preservation.

Reproductive outcome of male carriers of chromosomal abnormalities: multidisciplinary approach for genetic counseling and its implications

“…Patients with Klinefelter syndrome (KS) are often diagnosed late (Grace, 2004). Most patients with KS were diagnosed because of concerns regarding their reproductive capacities (Zhang et al, 2015a). Carriers with balanced translocations may be phenotypically normal, but are associated with an increased risk of pregnancy loss (Godo et al, 2013).…”

“…Among the 34 carriers of 47,XXY and azoospermia, 2 cases resulted in live births. In very few cases, KS men ejaculate spermatozoa and result in the birth of healthy children, following intracytoplasmic sperm injection (Zhang et al, 2015a). The technological development in testicular sperm extraction-intracytoplasmic sperm injection has assisted over 50% KS patients, providing them with the opportunity of having biological children (Bar et al, 2014).…”

“…For counseling individuals with chromosomal abnormalities, accurate information and assessment of associated medical conditions should be offered at diagnosis and should be followed by psychological counseling (Gies et al, 2014;Zhang et al, 2015a;Wang et al, 2016). In this study, reproductive outcome of male carriers of chromosomal abnormalities, who accepted genetic counseling and psychological support, has been reported and its implications in genetic counseling have been discussed.…”

A rare variant Klinefelter syndrome seen 40 years later: 47,X,del(Xq24),Y

“…Particularly, Klinefelter syndrome has been detected in up to 14% of infertile patients with azoospermia (Walsh et al., 2009). The development of assisted reproductive technology has provided nonmosaic KS patients with the opportunity to have children (Zhang et al., 2015). Although testicular sperm extraction‐intracytoplasmic sperm injection has assisted over 50% of men with this syndrome, it is still uncertain for patients with variant KS (Bar et al, 2014).…”

Case study of a patient presenting both type II bipolar affective disorder and Klinefelter syndrome

“…Individuals with KS carry a supernumerary X chromosome and may present a very broad phenotypic spectrum with physical characteristics such as a small testicular size, gynecomastia, euchanoid body habitus, sparse body hair, long arms and legs, elevated gonadotropins, and infertility (Slim et al, 2009;Radicioni et al, 2010;Zhang et al, 2015). The cognitive phenotype in individuals with KS is characterized by a small downward shift in average overall intelligence quotient (IQ).…”