- Pituitary Tumors
- Studies on multiple adrenal tumors, Allgrove syndrome, Carney triad, familial hyperaldosteronism and other genetic endocrine conditions
- Clinical Research Studies
- Clinical and Molecular Analysis of ACTH-Independent Steroid Hormone Production in Adrenocortical Tissue
- Other genetic syndromes: Brancio-otic dysplasia, collagen defects, skeletal dysplasias, growth abnormalities, acromegaloidism
- How to Refer a Patient or Send a Sample for Genetic Studies
Pituitary Tumors
Articles
- An assessment of petrosal sinus sampling for localization of pituitary microadenomas in children with Cushing disease.
- Detection of adrenocorticotropin-secreting pituitary adenomas by magnetic resonance imaging in children and adolescents with cushing disease.
- Children experience cognitive decline despite reversal of brain atrophy one year after resolution of Cushing syndrome.
Protocol Information
Protocol 97-CH-0076
Studies on multiple adrenal tumors, Allgrove syndrome, Carney triad, familial hyperaldosteronism and other genetic endocrine conditions
Articles
- Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation.
- Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad.
- Functioning paraganglioma and gastrointestinal stromal tumor of the jejunum in three women: syndrome or coincidence.
- Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005.
- Multiple endocrine neoplasias in the era of translational medicine.
- Bone mineral density and fractures in Turner syndrome.
- Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin.
Clinical Research Studies
Adrenal Tumors
What are the adrenal glands?
These are the sole source in the body responsible for secreting three different classes of hormones: glucocorticoids, mineraolocorticoids, and catecholamines. They also are an important source of sex steroids, especially before puberty. Glucocorticoids (in humans cortisol, although different hormones in rodents) are necessary for maintenance of a variety of metabolic processes, including maintenance of blood sugar as well as regulating inflammatory states. Mineralocorticoids (aldosterone) are needed for the body to properly regulate salt and water balance. These hormones, as well as the sex steroids produced by the adrenals, are all manufactured in the outer portion of the adrenal gland, known as the adrenal cortex. Tumors of the adrenal gland that secrete these substances are therefore known as "adrenocortical tumors".
The remaining hormones secreted by the adrenal gland are the catecholamines, comprised mainly of epinephrine and norepinephrine (also known as adrenaline and noradrenaline). These hormones give rise to the "fight or flight" response, and are secreted by the inner portion of the adrenal gland, known as the adrenal medulla. Tumors of this portion of the gland are most commonly known as pheochromocytomas.
Types of adrenal tumors
- Cortisol producing adenomas (account for about 60% of hormone-secreting adrenocortical tumors)
- Aldosteronomas (account for about another 30% of tumors)
Pheochromocytoma
Please contact Dr. Karel Pacak at 301-402-4594 or karel@mail.nih.gov.
Other hormone secreting tumors
- Benign vs. Malignant Adrenal Tumors
- Adrenal incidentalomas
Due to the increasing frequency of the use of advanced body imaging techniques (for example, CT, MRI), nodules on the adrenal glands are being detected with ever increasing frequency. Recent retrospective studies estimate that between 1-5% of all adults have a lesion on the adrenal gland that can be detected by imaging (REF). The frequency of these lesions appears to increase roughly parallel with age, such that the older a person is, the more likely he is to have a nodule on the adrenal gland. Because the large majority of these are detected incidentally (that is, during a scan done for other reasons--such as abdominal pain), these lesions have been termed "incidentalomas".
Important!! The information on these pages is provided out of interest and to try to disseminate information about our work amd the particular rare diseases in which we are interested. It is not meant to be encyclopedic or authoritative. Any serious medical concerns should be discussed with appropriate physicans in a timely manner.
Work of Segen on Phosphodieserases
Clinical and Molecular Analysis of ACTH-Independent Steroid Hormone Production in Adrenocortical Tissue
Protocol Information
Protocol 00-CH-0160
Other genetic syndromes: Brancio-otic dysplasia, collagen defects, skeletal dysplasias, growth abnormalities, acromegaloidism
Articles
- SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
- Bone mineral density and fractures in Turner syndrome.
- A syndrome of overgrowth and acromegaloidism with normal growth hormone secretion is associated with chromosome 11 pericentric inversion.
- Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).
- Premature adrenal cortical dysfunction in mandibuloacral dysplasia: a progeroid-like syndrome.
How to Refer a Patient or Send a Sample for Genetic Studies
To refer a patient to one of our studies:
- For pediatric endocrine patients with diagnosis other than Cushing syndrome or a pitutary tumor: Call Meg Keil at 301-4353391 or e-mail at: keilm@mail.nih.gov.
- For patients with Cushing syndrome or with any pituitary tumor: call Eileen Lang at 301-496-0862 or email at: el192u@nih.gov or Meg Keil at the numbers above.
- For patients with any genetic condition use the contact people above or Dr. Margarita Raygada at 301-451-8822 or by email at margaritaR@mail.nih.gov.
To Send a Blood Sample for Genetic Testing:
Instructions for Sending a Blood Sample
Alternatively Dr. Stratakis can be reached at:
Address for the laboratory (Rm 1-3216, CRC, tel 301-4021998):
Building 10, CRC
Rm 1-3330 (East Laboratories)
MSC 1103
Bethesda, MD 20892
Tel. 301-496-6683
Fax 301-402-0574
stratakc@mail.nih.gov
http://segen.nichd.nih.gov
Address for the office and Training Program:
Building 10
Room 9D42
MSC 1830
Bethesda, MD 20892
Tel. 301-496-6683
Fax. 301-480-0378
stratakc@mail.nih.gov
https://www.nichd.nih.gov/about/org/dir/osd/tp/peitp
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