View clinical trials related to Disorders of Sex Development.
Filter by:The goal of this clinical trial is to identify structural variants by Optical Genome Mapping (OGM) in the described participant population. The main questions it aims to answer are: - Identify constitutional structural variants by OGM of DNA extracted from blood leukocytes of patients with DSD for which the molecular diagnosis is inconclusive. - Identify mosaic structural variants (present in a subpopulation of somatic cells only) by OGM of DNA extracted from blood leukocytes of patients with DSD for which the molecular diagnosis is inconclusive. - Compare the diagnostic yields of OGM and of Comparative Genome Hybridization Array (CGH array) methods. - Compare the diagnostic yields of the OGM and of Whole Genome Sequencing (National Sequencing Program), only if performed. Participants will be required to: - a follow-up interview with a physician to review their own and family medical and surgical history, with a focusing on DSD. - An interview to assess their exposure to environmental pollutants during fetal life, using a validated questionnaire. - a blood test with a 5mL tube to perform optical genome mapping analysis.
Background: Gynecologic conditions are those that are related to the reproductive system. They can be reproductive gland disorders or reproductive system tumors. They can also be inborn anomalies of the reproductive tract. Researchers want to gather data over time from a large group of young people with these conditions. Objective: To create a database about child and teenage gynecologic conditions. Eligibility: Participants of any age with known or suspected pediatric and adolescent gynecologic conditions, and their adult family members Design: Participants will be screened with a review of their medical records. Participants may have a medical history and physical exam. Participants will have blood drawn using a needle. The blood will be used for genetic tests. Participants will have saliva collected. They will spit into a small plastic container. Or their spit will be absorbed from their mouth using a small sponge. The saliva will be used for genetic tests. Participants may have samples collected from their vagina. A small cotton swab will be used to gather the samples. This procedure is optional. If participants have a surgery related to their condition, a small tissue sample will be taken. It will be stored for future research. Participants may complete optional surveys. These surveys ask about their physical and emotional health. They can choose not to answer any of the questions. Researchers will collect medical data from participants standard tests. Such tests may include blood and urine tests, X-rays, nuclear medicine scans, and other tests. Data will also be collected from standard treatments they may receive.
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: 1. comorbidities 2. medical and their impact on quality of life 3. medication use 4. 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.
Disorders of growth, puberty and sex development can have genetic causes. The exome analysis could detect new mutations responsible for these disorders and the frequency of these mutations in these disorders, their association with other malformations.