Pseudohypoparathyroidism

Chronic hypoparathyroidism is a rare condition in which the parathyroid glands do not make enough parathyroid hormone (PTH). PTH helps control the levels of calcium and phosphate in the blood. When there is not enough PTH, calcium levels can become too low and phosphate levels can become too high. This may cause symptoms such as tingling, muscle cramps, weakness, or other health problems. The most common cause of chronic hypoparathyroidism is surgery in the neck area. It can happen after thyroid surgery, surgery on the parathyroid glands, or other operations in the neck. At the moment, most patients are treated with calcium and vitamin D tablets. These treatments help control calcium levels, but they cannot fully replace the normal effects of PTH in the body. A medicine that contains a form of human PTH is available for some patients, but it is not yet the standard treatment for everyone. This registry collects medical information and follows patients over time. Its aim is to better understand patients' symptoms, possible long-term health problems, treatments, and overall health. A group of patients who have had their thyroid removed but do not have hypoparathyroidism will also be included for comparison.

Background: Parathyroid disorders are very common in the general population and include disorders of parathyroid excess, deficiency, or defects in parathyroid hormone (PTH) signaling. PTH, the main secretory product of parathyroid glands is responsible for regulation of calcium-phosphate homeostasis. Objective: i) To investigate the cause of parathyroid disorders ii) To describe evolution, natural history, and longitudinal trends of parathyroid and related disorders seen in syndromic presentations like multiple endocrine neoplasia, hyperparathyroidism-jaw tumor syndrome Eligibility: People ages 6 months older who have, are at risk of having, or are related to a person with a parathyroid or related disorder. Design: Participants will be screened with a review of their medical records. Participants will be seen, tested, and treated by doctors based on their condition. Their visits may be in person or via telehealth. Participants will complete questionnaires. They will answer questions about their physical, mental, and social health. Participants may give samples such as saliva, blood, urine, or stool. Participants may give cheek cell samples. They will do this using a cheek swab or by spitting into a cup. Adult participants may give a skin biopsy. For this, a small bit of skin is removed with a punch tool. Participants may have medical photos taken. If participants have surgery during the course of their regular care either at the NIH or at a different hospital or doctor s office, researchers will ask for some of the leftover tissue. Participants will be in the study as long as they are being seen by their doctor.

The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of the disease, with a molecular characterization, with a signed informed consent for all subjects, followed in one partner's center. The main questions it aims to answer are: * Can we identify common metabolic profiles for all imprinted diseases? * Which imprinting disorders have an impact on the metabolic profiles of IDs? * Which are the metabolic risks associated to IDs? * Can we use the metabolic profiles for the clinical classification and prognosis of IDs? * Are there common therapeutic approaches for all IDs?