Klinefelter syndrome: going beyond the diagnosis

Abstract

Although Klinefelter syndrome (KS) is common, it is rarely recognised in childhood, sometimes being identified with speech or developmental delay or incidental antenatal diagnosis. The only regular feature is testicular dysfunction. Postnatal gonadotropin surge (mini-puberty) may be lower, but treatment with testosterone needs prospective studies. The onset of puberty is at the normal age and biochemical hypogonadism does not typically occur until late puberty. Testosterone supplementation can be considered then or earlier for clinical hypogonadism. The size at birth is normal, but growth acceleration is more rapid in early and mid-childhood, with adult height greater than mid-parental height. Extreme tall stature is unusual. The incidence of adolescent gynaecomastia (35.6%) is not increased compared with typically developing boys and can be reduced or resolved by testosterone supplementation, potentially preventing the need for surgery. Around two-thirds require speech and language therapy or developmental support and early institution of therapy is important. Provision of psychological support may be helpful in ameliorating these experiences and provide opportunities to develop strategies to recognise, process and express feelings and thoughts. Boys with KS are at increased risk of impairment in social cognition and less accurate perceptions of social emotional cues. The concept of likely fertility problems needs introduction alongside regular reviews of puberty and sexual function in adolescents. Although there is now greater success in harvesting sperm through techniques such as testicular sperm extraction, it is more successful in later than in early adolescence. In vitro maturation of germ cells is still experimental.

Privacy and ethical challenges of the Amelogenin sex test in forensic paternity/kinship analysis: Insights from a 13-year case history

“…As reviewed in Gravholt et al [ 48 ] KS, the commonest type of DSD and the most prone to incidental findings, besides hypergonadotropic hypogonadism, testosterone deficiency and infertility, may also include cognitive impairment and increased risk of type 2 diabetes, cardiovascular disease, breast cancer, and extragonadal germ cell tumors, leading to significantly lower self-perceived quality of life and higher morbidity and mortality rates compared to the general population [ 48 ]. Several measures can be enacted to prevent severe disease and improve quality of life in KS [ 65 ], thus justifying the value of disclosure of unexpected results to individuals who opted-in for information [ 66 ]. Such measures may include: language therapy and developmental support in childhood; treatment with testosterone starting from puberty, when hypogonadism is already present, and then in adult life to reduce fat mass and improve muscle strength, bone density, libido and mood; enhanced surveillance for metabolic syndrome, cardiovascular and male breast cancer.…”

The Urgency of Karyotyping Examination in Male Infertility Patients with Primary Hypogonadism

“…In accordance with theory, this condition led to the diagnosis of Klinefelter Syndrome. 11,12 Hypogonadism is a complex clinical syndrome which consists of symptoms and signs as well as low testosterone hormone examination results. 5 As is known, testosterone is a hormone that has an important function in a person's sexual development, cognitive development and quality of life.…”

Reproductive hormones, bone mineral content, body composition, and testosterone therapy in boys and adolescents with Klinefelter syndrome

“…Although a clear benefit of TRT in most adult patients regarding social and sexual functioning can be seen, it is not well understood how TRT affects the general morbidity and mortality. It has been discussed whether early treatment with testosterone during puberty may improve bone mineral accrual and body composition and thereby potentially reduce the future risk of osteoporosis, insulin resistance and metabolic syndrome (54,55,56,57,58). So far, no randomized, placebo-controlled trials on TRT in pubertal boys with KS exist.…”