Turner Syndrome

Myelodysplastic syndromes (MDS) are chronic blood disorders marked by ineffective blood cell production and normal marrow richness. This research aims to understand the biological and clinical aspects of MDS, including its progression to acute leukemia, which occurs in 30 to 40% of cases. The study focuses on the genetic and molecular diversity of MDS and seeks to identify markers predicting disease progression through a biocollection. The study involves collecting and analyzing biological material from patients diagnosed or suspected of having MDS. It explores three key scientific projects: splicing abnormalities related to SF3B1 mutations, the role of chromosomal deletions such as 5q affecting splicing genes RBM22 and SLU7, and the progression of MDS to acute myeloid leukemia by studying the clonal architecture of malignant cells. These projects use advanced genetic and molecular analysis techniques to deepen understanding of MDS mechanisms. Participants provide biological samples and clinical data, which are used for detailed genetic and functional studies. The study monitors patients over time to observe disease evolution and identify prognostic markers. The primary outcome is an epidemiologic study of the MDS patient cohort over five years. Participation includes consenting to data and sample collection, enabling researchers to analyze molecular changes and better understand MDS progression and prognosis.

Researchers are evaluating the effects of two different progesterone supplementation methods in adolescents and young women with Turner Syndrome who also have primary ovarian insufficiency and are prescribed hormone replacement therapy. This Phase 4, single-site, open-label, non-randomized study compares sequential versus continuous use of progesterone to understand differences in menstrual bleeding patterns. Participants receive either oral micronized progesterone 200 mg for the first 12 days of a 30 to 31-day cycle (sequential supplementation) or oral micronized progesterone 100 mg daily throughout the entire 30 to 31-day cycle (continuous supplementation). Both regimens are studied over a 90-day treatment period. During the study, participants will track menstrual bleeding using the Pictorial Bleeding Assessment Chart, complete a menstrual distress questionnaire, and have endometrial thickness measured near the end of treatment. Researchers will assess these outcomes from enrollment through the 90-day treatment to understand how each progesterone regimen affects menstrual patterns and related symptoms.

This research aims to better understand exercise tolerance in girls aged 8 to 18 years who have Turner Syndrome. The study focuses on whether there is a difference in maximum oxygen uptake (VO2 max) when comparing girls with Turner Syndrome to standard values. It also examines how cardiovascular parameters like heart rate and blood pressure change during exercise. Participants will undergo a standardized cardiopulmonary exercise test using a cyclo-ergometer. This test is a diagnostic procedure designed to measure exercise capacity and cardiovascular response in this specific population. During the study, researchers will assess VO2 max, heart rate, and blood pressure within a week after the exercise test. These measurements will help evaluate how the participants' cardiovascular systems respond to exercise. The total participation involves completing the exercise test and follow-up assessments to gather these important health indicators.

This research aims to investigate the prevalence of liver changes in adult patients with Turner Syndrome (TS) and explore the possible causes behind these changes. The study seeks to understand how biochemical and structural liver abnormalities are related and to provide important insights into the development of liver disease in TS patients. The study is observational and retrospective, involving patients with TS who are monitored over time at a specialized endocrinology center. These patients were diagnosed by karyotype analysis and have undergone clinical evaluations including measurements of body parameters and medical history reviews focusing on metabolic and autoimmune conditions. Information about menstrual cycles and hormone replacement therapies will also be collected, along with laboratory tests. Participants will have their medical history and liver health data reviewed, including comparisons of liver function and structure using imaging techniques like fibroscan. Researchers will assess factors related to liver disease presence and progression. The study involves no experimental treatments, focusing on observation and data collection, with participant involvement primarily through clinical record review and laboratory assessments.

Researchers are studying growth disorders, obesity, and child development by collecting and analyzing growth data from children up to 18 years old. The CrescNet network, established in Leipzig, includes primary care physicians, pediatricians, and endocrinological centers aiming to improve early detection of growth issues through population-based data. This observational study also explores trends in child growth and weight development over time. Pediatricians participating in CrescNet provide anonymous data on patients' height, weight, and head circumference to a registry. The growth data undergo automated filtering and review by pediatric endocrinologists. Participating doctors receive quarterly reports with recommendations for further evaluation when abnormal growth or weight patterns are detected. No personal patient information is accessible to the study team. Participants contribute data during routine medical visits, including well-child checks, acute visits, or other appointments. The study collects anonymized information for scientific analysis, focusing on the prevalence of growth and weight disorders. The main outcome measures include rates of growth disorders and obesity in children up to 18 years. Since this is an observational study, there are no treatments or interventions, and participation involves only data collection and monitoring over time.

Researchers are evaluating whether testing embryos for chromosomal abnormalities, called aneuploidy, can help select embryos more likely to result in a healthy live birth. This study focuses on embryos from assisted reproductive technology (ART) that are already undergoing genetic testing for monogenic disorders (PGT-M). The goal is to see if preimplantation genetic testing for aneuploidy (PGT-A) can reduce miscarriages and improve the chance of healthy births by avoiding embryos unlikely to succeed. This observational study does not introduce new treatments but collects data on aneuploidy from embryo biopsies and the spent culture media, the fluid in which embryos grow. Both sources of DNA will be analyzed to predict whether embryos will lead to live births. The study will compare these predictions to actual clinical outcomes, assessing the positive predictive value (how often embryos predicted to succeed do so) and the negative predictive value (how often embryos predicted to fail do not result in live birth). Participants will undergo standard care with PGT-M biopsies, and additional samples may be collected before and after birth for further validation, including chorionic villus sampling, amniocentesis, fetal cells from maternal blood, and newborn DNA, though these are optional. Live birth data will be collected up to 10 months after embryo transfer. About 220 patients and 540 embryo transfers will be involved, with recruitment expected to take two years. The study aims to provide evidence on whether PGT-A should be used in clinical practice.

Researchers are evaluating the effects of two forms of estrogen replacement therapy (ERT) in women with Turner syndrome (TS), a genetic condition causing ovarian failure and hormone deficiencies. This phase IV randomized crossover trial aims to compare oral and transdermal estradiol treatments to determine if the two methods are equally effective by examining various markers influenced by estradiol. The study involves 50 women aged 18 to 50 years who are already receiving estrogen therapy. Participants are randomly assigned to receive either oral or transdermal 17-beta estradiol for 14 days, then switch to the other treatment after a one-week washout period, completing another 14 days of the alternate therapy. Blood samples are collected at four key points: before treatment, after the first 14 days, after the washout, and after the final 14 days. This design helps assess how the body responds to each treatment method over time. Throughout the 5-week study, participants undergo blood tests to monitor estradiol-dependent markers and the body's response to each treatment. Researchers will analyze changes in these markers to determine dose equivalence between oral and transdermal estrogen. The study also monitors safety and treatment effects, aiming to provide better guidance for hormone therapy in women with TS and contribute knowledge applicable to hormone replacement in the general population.

Researchers are conducting the GALAXY Registry study to learn more about individuals with X and Y chromosome variations, also known as sex chromosome aneuploidies. This observational study aims to collect detailed information from medical records of hundreds of patients seen at various clinics across the United States. The goal is to improve health outcomes and the care provided to people with these genetic variations. The study does not involve any treatment or intervention. Instead, it gathers data such as genetic test results, imaging, medications, and other health information over time. The registry collects this data longitudinally, following participants for up to 15 years to observe the development of various health conditions. Participants provide access to their medical records, and researchers track the occurrence of health conditions, including mental health diagnoses, obesity, dyslipidemia, hypertension, hypothyroidism, hyperthyroidism, and diabetes. The study monitors these outcomes from the start and continues for up to 15 years. Participants of all ages and genders can join, and the study includes regular data collection without requiring additional treatments or procedures.

This research focuses on people with Turner syndrome (TS) to explore genetic and epigenetic factors linked to sensorineural hearing loss (SNHL). The study aims to identify specific DNA methylation patterns and RNA expression profiles related to SNHL in TS, and to understand if epigenetics plays a key role in unexplained cases of SNHL. Turner syndrome serves as a model to investigate inner ear dysfunction and its connection to epigenetic profiles. Participants are grouped into three categories: individuals with TS and SNHL, individuals with TS without SNHL, and healthy age-matched controls without TS or SNHL. The study involves observational assessments without drug or device interventions. Participants will undergo ear exams, hearing and balance tests, blood draws, MRI scans, and cone-beam computed tomography (CBCT) scans. During the study, researchers will evaluate epigenetic profiles, hearing abilities, vestibular (balance) status, and structural ear malformations. These assessments will occur from 2024 through 2026. The study will monitor participants' inner ear structure and function, correlating findings with genetic and epigenetic data. The total participation period extends through 2027, allowing for comprehensive data collection and analysis.

Researchers are studying fertility challenges in individuals with Turner Syndrome, galactosemia, premature ovarian insufficiency (POI), and variations in sex characteristics. The study aims to understand why these conditions lead to early loss of ovarian function and whether freezing gonadal tissue can help preserve fertility for future use. The investigation includes examining the number and quality of follicles and gametes in the tissue and exploring the underlying biological reasons for follicle loss using advanced genetic sequencing techniques. Participants include children and adolescents aged 2 to 35 years who meet various condition-specific criteria. They may undergo medical history screening, physical exams, blood tests, body measurements, and ultrasound imaging. Some participants will have surgery to remove gonadal tissue, which will be frozen and stored for fertility preservation and used for research. The tissue storage is funded by NIH for one year, after which participants may be responsible for ongoing costs. Follow-up care includes checkups six weeks after surgery and periodic visits or phone calls for up to 30 years. During the study, participants will complete surveys about quality of life and health, and researchers will track hormone levels and analyze tissue samples before and after freezing. The study will monitor surgical outcomes and long-term effects of tissue freezing. Researchers will also develop a national database to better understand outcomes and explore treatments to improve follicle preservation. Participation involves extensive evaluations, long-term follow-up, and contributes to advancing knowledge on fertility preservation in these conditions.