Scientists uncover genetic secrets behind rare hormone disorders

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

* INCLUSION CRITERIA: 1. All patients with PPNAD and/or Carney Complex by history and their siblings, children and parents. Additional relatives and their families that are suspected to have the same disorder on clinical grounds will be recruited: 1. PPNAD patients will be included if their diagnosis is fully documented. First-degree relatives of patients with the disease will be accepted also for evaluation, or if already conclusively evaluated elsewhere, for DNA linkage analysis only. 2. Patients with suspected Carney complex will be accepted for evaluation and/or DNA analysis for linkage, if they have at least two of the following: <!-- --> 1. cardiac myxoma 2. cutaneous myxoma 3. breast myxoma 4. oral myxoma 5. myxoma of the external ear 6. spotty mucocutaneous pigmentation (lentigines) 7. testicular tumor 8. pituitary growth hormone secreting adenoma 9. nerve tumor, such as psammomatous melanotic schwannoma 10. first-, second-, or third-degree relatives with Carney complex (c) Patients with one of the familial lentiginosis syndromes: Peutz-Jeghers and LEOPARD syndrome, other forms of familial lentiginosis. EXCLUSION CRITERIA: 1. For DNA analysis and linkage study: 1\. Unwillingness to participate. 2. For clinical evaluation and DNA analysis/linkage study: 1. Patients with major illnesses, such as severe renal failure, restrictive or obstructive lung disease, cardiac disease, anemia and/or terminal cancer that will not be able to undergo appropriate testing or the stress of hospitalization. Also, patients with Carney complex and a known heart tumor (heart myxoma) will not be able to enter the clinical part of the study until after surgical treatment of their tumor. These patients, however, will be asked to participate in the DNA analysis study.