Background:
The pituitary gland produces hormones. A tumor in this gland can cause it to produce too much of the hormone cortisol. Too much cortisol in the body causes Cushing disease. This disease causes many problems. Some of these problems might persist after the disease is cured.
Objective:
To find out the long-term effects of exposure to high levels of cortisol during childhood and adolescence.
Eligibility:
People ages 10-42years who were diagnosed with Cushing disease before age 21 and are now cured and have normal or low cortisol levels
People related to someone with Cushing disease
Design:
Participants will be screened with a medical history.
Participants will complete an online survey. This will include questions about their or their child s physical and mental health.
All participants will be seen at 5 -year intervals after cure of Cushing disease (5yr, 10yr, 15yr, 20yr (last visit))
Participants who have a relative with Cushing disease will have a medical history and blood tests or cheek swabs.
Participants who have the disease will have:
Physical exam
Blood tests
Cheek swab
DXA scan: A machine will x-ray the participant s body to measure bone mineral content.
For participants who are still growing, a hand x-ray
Participants with the disease may also have:
Hormone stimulation test: Participants will get a hormone or another substance that will be measured.
Serial hormone sampling: Participants blood will be measured several times through a thin plastic tube in an arm vein.
Urine tests: Participants urine may be collected over 24 hours.
MRI: Participants may have a dye injected into a vein. They will lie on a table that slides into a machine. The machine will take pictures of the body.
Males and females 10-42 years old (subjects) who were previously diagnosed and had successful treatment of CD before the age of 21 years old. Patients who have undergone therapies other than surgical resection (such as radiation or medical treatment) will be eligible to participate.
Normocortisolemia or hypocortisolemia at the time of the study (as documented within past 6 months of recruitment) documented as urine free cortisol or midnight/afternoon serum or salivary cortisol levels within or below the normal range or documented panhypopituitarism (on glucocorticoid replacement).
Patients or a legal guardian (in case of cognitively impaired adults or children) must provide assent/consent at the time of the recruitment.
Family members (2- 90 yrs.) of patients with a family history of pituitary tumors and who agree to participate in the DNA/linkage analysis study.
Pregnancy
Patients with any medical, physical, psychiatric, or social conditions, which, in the opinion of the investigators, would make participation in this protocol not in their best interest, will be excluded from the on-site visit of the study. Patients who are critically ill, unstable, or with severe organ failure that may affect/limit the endocrine evaluation and place unsustainable demands on Clinical Center or NICHD resources will be excluded. They will still be offered the opportunity to participate in the online questionnaire part of the study.
The study population will consist of patients that were previously successfully treated for CD before the age of 21 years. We aim to identify these patients through review of our current protocol 97-CH-0076 on Clinical and genetic investigation of pituitary and hypothalamic tumors , which has been recruiting patients since 1997. We will also accept patients who have been diagnosed and successfully treated for pediatric CD at outside institutions after reviewing the medical records and confirming their diagnosis. The patients must be normocortisolemic at the time of their recruitment. Family members of subjects who are survivors of pediatric Cushing disease will be invited to participate in the DNA/linkage analysis study.
Cohort
Prospective
Not listed
Difference in body mass index z-score of subjects previously treated for Cushing disease compared to general population
The primary outcome measure of the study is the difference in the Body Mass Index (BMI) z-score of the patients previously treated for pediatric CD compared to the general population, as calculated by data derived from the NHANES study.
Prevalence of endocrine and non-endocrine abnormalities
The secondary outcomes will be to describe the prevalence of other endocrine and non-endocrine abnormalities after successful treatment of CD in childhood, including: growth hormone, thyroid, gonadal, adrenal function; bone mineral density; glucose metabolism; lipid profile; cardiovascular abnormalities; immunologic changes; coagulation function; psychiatric diseases, behavioral symptomology; neurocognitive function; and quality of life.
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