Genetic Disorder

Background: \- During puberty, children begin to develop into adults. Problems with the hormones released during puberty can affect the reproductive system. Some people have low hormone levels that severely delay or prevent puberty. Others start puberty abnormally early. Other people may have a normal puberty but develop reproductive disorders later in life. Researchers want to study people with reproductive disorders to learn more about how these disorders may be inherited. Objectives: \- To learn how reproductive system disorders may be inherited. Eligibility: * People with one of the following problems: * Abnormally early puberty * Abnormally late or no puberty * Normal puberty with hormonal problems that develop later in life * People who have not yet had puberty but have symptoms that indicate low hormone levels. Design: * Participants will provide a blood sample for testing. They will complete a questionnaire about their symptoms. They will also have a scratch-and-sniff test to study any problems with their ability to smell. * Participant medical records will be reviewed. Participants will also provide a family medical history. * Family members of those in the study may be invited to participate. * Treatment will not be provided as part of this study.

This study aims to assess the overall seroprevalence of neutralizing antibodies against different AAVs potentially used in gene therapy in patients with genetic neuromuscular diseases.

The goal of this observational study is to enroll all patients evaluated at the specialized Cardiogenetic Center within the Cardiology Department of the University of Ferrara, Italy. The primary aim of the registry is to collect comprehensive clinical, genetic, and electrophysiological data from individuals with suspected or confirmed arrhythmogenic conditions. By systematically documenting patient demographics, family history, clinical presentations, diagnostic findings, and treatment outcomes, the registry seeks to enhance our understanding of the genetic basis and clinical implications of genetically driven arrhythmias and systemic syndromes. This registry will facilitate long-term follow-up of enrolled patients to assess the natural history of arrhythmogenic disorders and the effectiveness of various therapeutic interventions. Additionally, it aims to identify potential risk factors associated with adverse outcomes, such as sudden cardiac death or major arrhythmic events.

LIPIGEN is an observational study involving Italian physicians and researchers in the field of diseases related to blood lipid levels. This study aims to improve the diagnosis and treatment of people with familial dyslipidaemias, including very common conditions such as familial hypercholesterolaemia (FH) and less common ones such as familial chylomicronidaemic syndrome (FCS). What does the study do? It collects information on Italian patients with Familial Hypercholesterolaemia (FH), following them in their normal clinical examination without adding extra procedures. It uses the data collected to further our understanding of diseases such as familial hypercholesterolaemia, examining how it is diagnosed clinically and by genetic testing, and evaluating the effectiveness of different treatments. It seeks to identify the genetic mutations that cause familial hypercholesterolaemia and other dyslipidaemias, helping to choose the most effective treatments. It evaluates the impact of long-term treatments and patient adherence to medication, as well as monitoring the incidence of cardiovascular events and other important outcomes. Who can participate? The study is aimed at people of all ages, from children to adults, with familial hypercholesterolaemia or other genetic dyslipidaemia. More than 50 centres throughout Italy are involved, making the study accessible to many. What does participation entail? Participants will continue with their normal clinical practice. Data such as family history, personal clinical findings and genetic information will be collected, without additional procedures. For some, further evaluations, such as ultrasounds, may be required to better study their condition. The LIPIGEN study not only helps to better understand diseases related to high cholesterol but also aims to improve patients\' lives through more precise diagnosis and personalised treatments.