11 Clinical Trials for Various Conditions
Hypotheses: 1. The prevalence of endocrinopathies, and growth hormone (GH) deficiency in particular, among young children diagnosed with optic nerve hypoplasia (ONH) is higher than is commonly thought. 2. Early treatment of children with ONH and GH-deficiency can prevent adverse outcomes. Aims: 1. Determine the prevalence and types of endocrinopathies in children diagnosed with ONH. 2. Correlate endocrine outcome with radiographic, ocular, and developmental findings in children with ONH. 3. Examine the effect of GH treatment on growth and obesity in children with ONH, GH-deficiency, and either subnormal or normal growth compared to children with ONH that are not GH-deficient. 4. Compare growth outcomes between children with isolated GH-deficiency and those with multiple hormone deficiencies.
The purpose of this study was to address 3 short term objectives; (1) Determine the effects of physiologic testosterone (T) therapy on neurological function and functional independence following traumatic brain injury (TBI) in hypogonadal men during inpatient rehabilitation; (2) Document the natural history of neuroendocrine dysfunction and recovery in men during inpatient rehabilitation after TBI; (3) Obtain data to validate the NIH toolbox, a novel assessment of neurological function for use in the TBI population; and 2 long-term objectives: (1) Utilize study findings to design a multicenter trial to further assess the impact of T therapy in hypogonadal men following TBI and (2) Impact TBI practice management with new information about neuroendocrine dysfunction after TBI and hormone treatments to improve outcomes.
This study will evaluate patients with a variety of endocrine disorders in order to 1) learn more about conditions that affect the endocrine glands (glands that secrete hormones) and 2) to train physicians in endocrinology. Patients of all ages with endocrine-related conditions may be eligible for evaluation under this protocol. Those enrolled may be required to provide blood, saliva, urine or stool samples, and to undergo ultrasound examination of the thyroid gland, ovaries or testes, adrenal glands or other parts of the body. Laboratory or X-ray studies may be done for diagnostic or treatment purposes. In some cases, patients will receive medical or surgical treatment for their disorder. Patients and family members of patients with a hereditary disorder may be asked to provide a blood sample for genetic analysis.
The current study will compare hormone levels of AMH, FSH and inhibin B in blood specimens collected by venipuncture and fingerstick in a sample of pre-menopausal women ages 18-45 years with normal menstrual cycles.
Background: There are many endocrine and metabolic-related conditions. Two well-known disorders include diabetes and thyroid disease. Some of these diseases are caused by a change in genes. Researchers want to identify the genes involved in these disorders. They hope this will help them learn more about these diseases. Objectives: To learn more about conditions that affect the hormone-secreting glands (endocrine glands) in adults. To train doctors to diagnose and treat people with endocrine or metabolic conditions. Eligibility: Adults age 18 years and older with a known or suspected endocrine disorder. Relatives ages 18 years and older. Doctors will review all requests and available medical records to determine final eligibility for the protocol. Design: Participants will have a medical history and physical exam. Most participants will have 1 visit, and may have follow up visits if necessary. They may have tests, surgery, or other procedures to help diagnose or treat their condition. These could include: * Blood, urine, and saliva tests * Imaging tests. These may include X-ray, ultrasound, or scans. * Sleep study * Medical photographs * Visits with other specialists at NIH Participants will provide blood, urine, saliva, or tissue samples. Some of these samples may be stored in the freezer for future studies. Participants may be asked to participate in genetic testing. They will give a blood or saliva sample for this.
The investigators propose to conduct a cross-sectional study of 60 participants who are 18-30 years of age to undergo research PET/CT. The purpose of this study is to investigate the relationships between Brown Adipose Tissue (BAT), the adiponectin/leptin (A/L) ratio, and components of the metabolic syndrome in young adults.
This study will determine the prevalence of endocrine-related side effects in children who have been treated for cancer and establish a database and registry organized according to cancer diagnosis, treatments and endocrine side effects. In children, the endocrine system, which includes glands and hormones that help to control metabolism, growth, development and reproduction, is particularly vulnerable to long-term side effects associated with cancer and its treatments. The study will also serve to help train medical fellows, residents and students in identifying and managing endocrine abnormalities in children who have been diagnosed with and treated for cancer. Children between 2 and 24 years of age who have been treated for a childhood cancer and have been disease-free for at least 1 year may be eligible for this study. All participants undergo the following procedures: * Review of cancer treatment record * Review of medical and family history * Blood draw for DNA studies * Physical examination and body measurements (height, weight, waist, body proportions) * Completion of child health questionnaires * Individualized screening and counseling program * Review of the following endocrine systems: growth, pituitary and hypothalamic function, thyroid function, ovary and testicular function, bone health, risk of obesity and diabetes The following additional studies may be done, as clinically indicated: * Magnetic resonance imaging (MRI) of the brain * Thyroid, testicular or ovarian ultrasound * DEXA scan to measure bone density * Wrist x-ray to measure bone age * Blood tests * Urine pregnancy test for girls who are old enough to have menstrual periods * Stimulation testing (tests that involve giving medicine by mouth or in the vein and then measuring blood levels of substances afterwards, such as oral glucose tolerance test, arginine-clonidine growth hormone stimulation test, ACTH stimulation test, and gonadotropin-releasing hormone stimulation test) Children with endocrine abnormalities are offered standard treatments.
OBJECTIVES: I. Determine whether diverse mutations of the vasopressin-neurophysin II (AVP-NPII) gene cause autosomal dominant familial neurohypophyseal diabetes insipidus by directing the production of an abnormal preprohormone. II. Determine whether the AVP-NPII gene-directed preprohormone accumulates and destroys magnocellular neurons because it cannot be folded and processed efficiently.
OBJECTIVES: I. Determine the response in plasma norepinephrine concentration and plasma glycerol to the agonist (clonidine) and the antagonist (yohimbine) of the alpha-2 adrenergic receptor in 6 patients with regional lipoatrophy and in 6 controls. II. Determine the full sequence of the alpha-2 adrenergic receptor structural gene in genomic DNA from peripheral blood leukocytes.
OBJECTIVES: I. Evaluate whether chronic hypercortisolemia is specifically toxic to hippocampal cells and causes structural reduction of hippocampal volume in patients with Cushing's syndrome. II. Determine whether reduced hippocampal volume is associated with specific memory dysfunction. III. Examine the relationships of adrenal androgen to hippocampal volume and memory dysfunction. IV. Examine the reversibility of hippocampal structural changes and cognitive dysfunction after cortisol levels are normalized.
The goal of this study is to assess whether using PTeye (AiBiomed, Santa Barbara, CA) - a NIRAF detection modality - can improve patient outcomes and reduce healthcare associated costs after parathyroid surgeries. By being able to quickly and definitively locate parathyroid glands while in the operating room, the duration of surgical procedure could be further reduced. In addition, the number of frozen section biopsy and associated costs can be minimized. Furthermore, repeat surgeries as a result of missing a diseased parathyroid gland at the time of the initial parathyroidectomy for hyperparathyroidism could potentially be avoided.