At the present time, clinicians with expertise in managing KS generally agree that testosterone treatment is beneficial for most men and adolescents with KS who have elevated luteinizing hormone and low (or low-normal) serum testosterone concentrations, although there are certainly those that think that testosterone levels should fall below the normative range before commencing therapy. As testosterone concentrations in an adolescent or young man with KS may still be in the low normal range although often with elevation of gonadotropin levels becoming evident, the criteria for initiating testosterone treatment given in most guidelines, for example, repeated low testosterone levels or symptoms of hypogonadism, represent a reactive approach that may lead to insufficient treatment in KS. However, these guidelines are not specific to the primary hypogonadism that is characteristic of KS, nor do they address hypogonadism and testosterone treatment during puberty. In the original publication describing KS, it is stated that "testosterone therapy is probably indicated," but the authors also reported little effect of high-dose testosterone treatment on the visual presentation of the index cases, particularly regarding the size of testes and gynecomastia (Klinefelter, Reifenstein, & Albright, 1942). Mean testosterone level in this group was 354 ng/dL 50–658. A total of 1581 men with KS received laboratory measurement of testosterone level, 1113 (70.4%) of whom were hypogonadal. Prevalence of testosterone deficiency was determined as defined by testosterone level Joshua Theodore White, MD, for preliminary analysis of data presented at American Society for Reproductive Medicine Scientific Expo and Congress 2022. If you or your son are living with any of the symptoms of Klinefelter syndrome, there’s hope for a more balanced life and relief from the effects of this genetic condition. However, since most KS cases are diagnosed in adulthood (Berglund et al., 2019; Garolla et al., 2018), the pubertal window for initiation of treatment is often missed, and supplementation is then initiated after a diagnosis has been made if hypogonadism is present, which it almost invariably is. Interventions teaching these effective coping strategies could be implemented for individuals with KS to potentially improve quality of life measures. These results, however, do not match with our clinical impression, where we see a clear benefit in most adult KS patients from testosterone therapy with improvement in social functioning, sexual function, sleep, and vigor. In support, we did not found any significant differences in quality of life scores between treated and nontreated adults in our Danish men with KS (Skakkebaek et al., 2018). In our recently published study, we evaluated predictors of mental quality of life as well as physical quality of life. In the study by Close et al., a combined index of (total) quality of life, physical quality of life, and social quality of life were found to correlate negatively with phenotypic severity with 22 % of the variance in total quality of life explained by the phenotype (Close et al., 2015). According to World Health Organization, quality of life is defined as an individual’s perception of their position in life in the context of the cultural values in which they live in addition to their goals and expectations including physical health, psychological state, level of independence, social relationships as well as personal and environmental aspects (WHO, 1995). People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Klinefelter syndrome is a sex chromosome disorder that results from the presence of an extra X chromosome in cells. It is the most common sex chromosome disorder, which is a group of conditions caused by changes in the number of sex chromosomes (the X chromosome and the Y chromosome). Affected children have an increased risk of mild delays in speech and language development. Most commonly, affected individuals are taller than average and 2 to 3 inches taller than would be expected for their family. A small percentage of affected individuals are born with undescended testes (cryptorchidism). In the short video, she explained that while he "looks like a normal toddler," he has a chromosomal disorder. "He is the youngest of three boys. He loves to play with his big brothers, play outside and play in the water. He is so adorable, cuddly and so sweet," she tells PEOPLE. Theodore is her youngest son, and Nicklow shares that, aside from his diagnosis, he is a "typical 2-year-old toddler." The mom of three says the only thing Theodore's diagnosis has changed about her parenting is that she has now learned to "slow down and embrace the chaos." Recently, the effect of testosterone (or other androgen) treatment on body composition in individuals with KS has been evaluated in three placebo-controlled randomized trials in different age groups (Host et al., 2019). Also, typically in cross-sectional and uncontrolled studies, no change is seen in BMI after testosterone treatment in KS, possibly due to counter-balancing effects of fat loss and muscle build up (Bojesen, Kristensen, et al., 2006; Chang et al., 2015; Granato et al., 2019; Selice et al., 2013). As an example, in our most recent cross-sectional study, total body fat in testosterone-treated men with KS was 20% lower in treated compared with an age-matched group of untreated men with KS (Chang, Biltoft, et al., 2019).
