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NCT07142135
Klinefelter syndrome (KS) is the most frequent sex chromosome disorder affecting approximately 1:660 newborn boys. The prevalence of KS rises to 3-4% among infertile males and 10-15% in patients with non-obstructive azoospermia. KS is highly underdiagnosed, and diagnosis is often delayed. Phenotypic variability, and especially a presentation with mild clinical features, often leads to diagnostic delay or non-diagnosis. It has been estimated that 50-75% of males with KS never obtain a diagnosis (Berglund et al., 2019; Bojesen et al., 2003). Despite increasing interest in studying KS during recent years there remain significant gaps in our overall understanding of KS, including when and how to start testosterone replacement therapy (TRT), how to prevent co-morbidities, mechanisms of complications, success of fertility preservation and assessment of quality of life in affected individuals. This translates into differences in standards of care for these patients, with substantial variability in clinical practice. International guidelines regarding the care of patients with KS were published by the European Academy of Andrology/European Society of Endocrinology in 2021 (Zitzmann et al., 2021) to improve the clinical care of these patients. These guidelines, however, are limited by a general lack of scientific evidence due to the low number of studies in the field. This increases the need to systematically collect more information to develop individualized and optimized care for future patients. The investigators therefore aim to systematically describe the phenotype of Klinefelter syndrome throughout life by collecting clinical, biochemical, genetic, and radiological data on reproductive development, fertility, anthropometry, bone age, body composition, bone mineralization, co-morbidities, biomarkers of general health as well as psychopathology and mental health. Hypotheses: 1. Patients with KS may differ from controls in their biological health profile (hormonal, thyroid, metabolic, inflammatory, genetic, and epigenetic) which may affect their lifestyle and alter disease risk. Detailed knowledge about such alterations and at what age they appear may facilitate more individualized and optimized treatment regimens with the goal to prevent co-morbidities. 2. Hypertension, bradycardia and long QTc may be more frequently present in adults with KS. The investigators hypothesise that both blood pressure and electro cardiograph (ECG) are normal in childhood and adolescence. Knowledge about the mechanisms behind these phenomena and when they appear will help us in understanding the biological mechanism and in optimizing preventive interventions. 3. Men with KS are taller than their genetic potential. This may at least in part be attributed to an increased growth velocity through childhood before puberty. 4. Genetic and epigenetic alterations may explain the phenotypic variability and the associated co-morbidities may be caused by such alterations. 5. Virilization (penis length and width, pubic hair development, voice frequency) is impaired in adolescents and adults with KS. 6. Patients with KS face a greatly increased risk of being affected by psychopathology such as attention deficit and hyperactivity disorder (ADHD) and depression. In addition to the clinically observable lack of energy (fatigue) and social withdrawal, this may affect quality of life, and impact long-term mental health. Learning more about the factors supporting mental health in boys and men with KS will significantly advance our chances of alleviating these common complaints and preventing long-term complications. 7. Patients with KS may have distinct facial characteristics. Knowledge about such characteristics may increase the likelihood of identifying patients with KS and thereby improve the diagnostic delay. Data Collection The data base will consist of clinical and biochemical data and results obtained at the routine control visits and admittance at a hospital. Data will be collected both retrospectively (from the medical record) and prospectively. Retrospective data from the medical record will include data collected at previous visits at the Department of Growth and Reproduction (e.g. anthropometry, Dual-Energy X-ray Absorptiometry (DXA) scans, bone age (including bone health index (BHI), hormone concentrations, karyotype, biomarkers of general health, blood pressure, pulse, semen quality, results of micro testicular sperm extraction (TESE) and testicular histology as well as medical treatment in general and other diagnoses/co-morbidity).
NCT05586802
The study seeks primarily to determine whether modulation of systemic and testicular sex steroids balance by aromatase inhibitors will positively affect the metabolic health and spermatogenesis of men with Klinefelter syndrome (KFS) as compared to the current state of the art for each issue. Secondary objectives of this study are (i) to unravel the heterogeneity of the reproductive and metabolic phenotype of men with KFS by performing a multi-omic analysis in a large cohort at baseline; (ii) to evaluate the efficacy of semaglutide-induced weight loss to achieve metabolic and reproductive benefit in men with Klinefelter syndrome as compared to standard testosterone replacement; (ii) to assess whether addition of hCG to aromatase inhibitors further increases intratesticular testosterone and promotes spermatogenesis in men with KFS.
NCT05997706
Organoid Model to unravel Klinefelter Syndrome infertility Klinefelter Syndrome (KS) is characterized by the presence of an extra chromosome X in male (47,XXY), it is the most frequent genetic cause of azoospermia in adult men. The investigators will isolate and expand spermatogonial cells from KS patients, then using an organoid model investigators will compare the behavior of these Spermatogonia from KS patients when interacting with four combinations of somatic cell types incorporated in the Extra Cellular Matrix hydrogel.
NCT03325647
This research study in infant males with Klinefelter syndrome (47,XXY) will learn more about the effect of testosterone on early health and development. The study is a total of three visits over 6 months with assessments of motor skills, body composition (muscle and fat), and hormone levels. This is a randomized, placebo-controlled study but all infants will receive testosterone treatment during the study period. The investigators will learn how testosterone treatment in infancy effects short term outcome measures on health and development.
NCT00348946
The purpose of this study is to evaluate the effects of low-dose androgen on the motor and cognitive development of boys with Klinefelter syndrome.
NCT02414295
Klinefelter syndrome KS is caused by an additional X chromosome in males (47,XXY). Clinical findings are nonspecific during childhood; thus, the diagnosis commonly is made during adolescence or adulthood in males who have small testes with hypergonadotropic hypogonadism and gynecomastia. Virtually all men with Klinefelter syndrome are infertile. Approximately one in 1,000 boys is born with an additional X chromosome-47,XXY, the karyotype that causes Klinefelter syndrome. This karyotype is detected at or before birth in 10 percent of affected boys, and it is found during adulthood in 25 percent of affected men. Almost all men with a 47,XXY karyotype will be infertile; Klinefelter syndrome accounts for 3 percent of male infertility. Klinefelter syndrome is common in infertile men with oligospermia or azoospermia (5 to 10 percent). Infertility in men with Klinefelter syndrome is caused by a precipitous drop in sperm count. If sperm are present, cryopreservation is useful for future family planning with intracytoplasmic sperm injection, and if not, testicular sperm extraction may be pursued. Although there have been multiple reports of successful fertilization by men with Klinefelter syndrome. Mesenchymal stem cell injection in testicular tubules and intra testicular artery using surgical microscope. The period for follow up last from three months to twelve months including semen analysis to detect sperm and hormonal profile .
NCT01817296
Klinefelter syndrome occurs in 1 in 600 males and is a common cause of infertility in men. It appears scar tissue forms in these boys' testicles, leading to progressive destruction over their lifetimes. Advanced reproductive technology can be used to surgically retrieve sperm from these individuals, but these methods have a 50% failure rate in adult Klinefelter patients. Younger men have higher success rates, suggesting that adolescence and young adulthood may be the best time to extract sperm, but these techniques have not been studied in Klinefelter patients younger than 26 years of age. Additionally, there is currently no way to predict which Klinefelter patients will have success with these methods and which of them will not. This trial will explore sperm extraction in Klinefelter syndrome in an age range (12-25 years) that has never been studied, with the ultimate hope of improving the potential for fertility in these patients. The specific goals of this study are to determine the ideal age for sperm retrieval in Klinefelter patients and to establish factors that can be used to predict which of these patients will have a higher likelihood of success with advanced reproductive technology. The hypothesis is that younger Klinefelter patients will have higher sperm retrieval rates.
NCT00523835
Klinefelter syndrome (KS) is the most common sex-chromosome disorder with a prevalence of one in 660 men and is a frequent cause of hypogonadism and infertility. It is caused by the presence of extra X-chromosomes, the most common karyotype being 47,XXY. The phenotype is variable, but the most constant finding is small hyalinized testes, hypergonadotrophic hypogonadism, infertility, eunuchoid body proportion, increased height and learning disabilities. Klinefelter syndrome has been associated with increased prevalence of diabetes, osteoporosis and cardiovascular diseases but the pathogenesis is unknown. Accordingly the aim of the study was to investigate measures of body composition, insulin sensitivity, bone mineral density, echocardiography, as well as biochemical markers of endocrine, metabolic and bone function in KS and an age-matched control group.