Testing of Adrenal Axis Function in Patients With Combined Pituitary Hormone Deficiency Caused by PROP1 Mutation
نویسندگان
چکیده
منابع مشابه
PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.
OBJECTIVE Mutations of the PROP1 gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less frequently, ACTH. This study was undertaken to investigate the molecular defect in a cohort of patients with CPHD. DESIGN, PATIENTS AND MEASUREMENTS A multicentric study involving 46 cases of CPHD (17 familial cases belonging to s...
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Growth hormone (GH) is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma. Normal growth without GH can be explained by hyperinsulinemia, hyperprolactinemia, elevated leptin levels, and GH variants; however, its exact mechanism has not been elucidated yet. We diagnosed a female pa...
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BACKGROUND Hypothalamic-pituitary-adrenal (HPA) axis function, as variously measured by the responses to the combined dexamethasone/corticotrophin-releasing hormone (dex/CRH) test, the dexamethasone suppression test (DST) and basal cortisol levels, has been reported to be abnormal in bipolar disorder. AIMS To test the hypothesis that HPA axis dysfunction persists in patients in remission from...
متن کاملRecombinant human growth hormone replacement in a Japanese man with a novel PROP1 gene mutation (R112X).
Congenital combined pituitary hormone deficiency (CPHD) is associated with deficiencies of anterior pituitary hormones. PROP1 gene mutations are often responsible for CPHD, but few such cases have been reported in Japan. This study describes a 37-year-old Japanese man with CPHD, treated with hydrocortisone, testosterone, and L-thyroxine, who was evaluated for adult growth hormone deficiency (GH...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2021
ISSN: 2472-1972
DOI: 10.1210/jendso/bvab048.1293