Active clinical trials for "Klinefelter Syndrome"

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.

The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of neurogenetic disorders that leave individuals at risk for developmental delays or intellectual and developmental disabilities. The proposed project will capitalize and expand upon existing empirically based interventions designed to improve outcomes for infants with suspected developmental delays. Participants will be infants with a confirmed diagnosis of a neurogenetic disorder (e.g., fragile X, Angelman, Prader-Willi, Dup15q, Phelan-McDermid, Rhett, Smith Magenis, Williams, Turner, Kleinfelter, Down syndromes, Duchenne muscular dystrophy) within the first year of life and their parents/caregivers. The intervention, called Parent-infant Inter(X)action Intervention (PIXI) is a comprehensive program inclusive of parent education about early infant development and the neurogenetic disorder for which they were diagnosed, direct parent coaching around parent-child interaction, and family/parent well-being support. The protocol includes repeated comprehensive assessments of family and child functioning, along with an examination of feasibility and acceptability of the program.

This study will learn more about how the body uses energy. Usually, the body uses sugars as energy first and then fats are used when the sugar stores are gone. Some people have trouble using fats as energy. This can lead to feeling tired, difficulty exercising, and storing too much fat where it does not belong (like in the muscle). It is believed that some boys and men with Klinefelter Syndrome may not be able to use fats as energy normally, and that a medication called fenofibrate could help this.

Rationale: Health related Quality of life (HRQoL) is impaired in patients with Turner and Klinefelter syndrome (TS and KS). It is unknown what the optimal endocrine treatment target values are that maximize HRQoL in patients with these syndromes. Therefore the relation between HRQoL and biochemical parameters will be studied in large cohorts of patients with TS and KS. This information will give essential insight that will help to improve endocrine treatment and HRQoL in these patients. Research objectives: To explore the relationship between biochemical parameters and HRQoL in patients with TS and KS. Hypothesis: Biochemical parameters are related to HRQoL in patients with TS and KS. Study design: Cross-sectional, observational, multicentre study Study population: Patients with KS or TS, 18 years or older Methods and procedures: To measure fatigue the Checklist Individual Strength (CIS-20) will be used, for QoL the 5-level EQ-5D (EQ-5D-L5) will be used and for stress the Perceived Stress Scale (PSS) and hair cortisol levels. For patients with KS the anxiety scale from the Liebowitz social anxiety scale (LSAS) will be used to measure social anxiety. To measure the long-term exposure to testosterone in KS patients, testosterone concentrations in hair will be measured. For patients with KS, all questions from the questionnaires will be discussed orally during a visit to the outpatients clinic. One extra tube of blood and a strand of hair will be collected during routine blood withdrawal. All other variables are already part of the standard patient care and are available in patient records. For patients with TS all information including the questionnaires and laboratory values is already available and will be collected from clinical records. Main study parameters/endpoints: The relationship between different hormonal parameters and HRQoL as measured by questionnaires. The main hormonal parameter that will be investigated in KS is testosterone in hair. For patients with Turner syndrome, free thyroxine (FT4), thyroid stimulating hormone (TSH) and liver enzymes, which have already been collected, will be investigated. The relationships between the EQ-5D-L5 score and testosterone in hair (in patients with KS) and thyroid hormone status (in patients with TS) are the primary outcomes.

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.

Observational study of 160 patients with sex-chromosome abnormalities and 160 matched controls. Blood, fat, muscle, skin, buccal swaps, urine will be collected and analyzed for DNA, RNA and methylation patterns. The goal is to associated genotype and epigenetic changes with the phenotype of patients with sex-chromosome abnormalities. Patients participate in questionaries, dexa-scan of bones, fibroscan of liver, ultra sound of testicles and blood will be analyzed for organ specific blood work as well as immunological and coagulation components.

This study is designed to research the natural history of neurodevelopment, health and early hormonal function in infants with XXY/Klinefelter syndrome, XYY, XXX and other sex chromosome variations in an effort to identify early predictors of developmental and health outcomes. The Investigators will also evaluate different developmental screening tools in infants with sex chromosome variations so the investigators can develop recommendations for pediatrician caring for infants and young children with XXY/Klinefelter syndrome, XYY, XXX, and other sex chromosome variations.

Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists. Increased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes. Medical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines. The aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including: comorbidities medical and their impact on quality of life medication use the need for adaption of medication dose according to each syndrome Methods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.

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.

Transition from paediatric to adult endocrinology is a challenge for adolescents, families and doctors. Up to 25% of young adults with chronic endocrine disorders are lost to follow-up ('drop-out') once the young adult moves out of paediatric care. Non-attendance and sub-optimal medical self-management can lead to serious and expensive medical complications. In a pilot study, adolescents suggested the use of e-technology to become more involved in the transition process. The investigators have designed and developed the YESS! game, a tool to help improve medical self-management in adolescents with chronic endocrine disorders. The hypothesis is that adolescents playing the YESS! game will show a larger increase in self-management score during the first year of transition and will have a lower drop-out rate at the adult endocrine outpatient clinic (OPC), compared to adolescents who do not play the game.