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
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
People ages 6 months older who have, are at risk of having, or are related to a person with a
parathyroid or related disorder.
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
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
Participants will be in the study as long as they are being seen by their doctor.
Diseases of mineral metabolism such as familial multiple endocrine neoplasia type 1 (FMEN1),
familial hypocaliuric hypercalcemia (FHH), familial hyperparathyroidism (FH), and
pseudohypoparathyroidism (PHP) are known as hereditary abnormalities. Meaning these
conditions are passed from parents to their children through genes. These specific conditions
result in abnormal levels of calcium in the blood.
This study was designed to help researchers understand more about the genes that are
responsible for these disorders. By learning more about the genetic process involved in
hereditary abnormalities, new tests and treatments can be developed.
Subjects for this study will be members of families that have had relatives diagnosed with a
disease of mineral metabolism. Participants will be asked to give blood samples for DNA
extraction. DNA is the part of cells that carries genetic information.
The DNA will be analyzed and the results given to the subjects. Genetic counseling will be
provided to subjects to aid in interpreting their results.
The trial is Open with a status of Active, not recruiting.