Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01189 (beta-endorphin)
 21,003 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 74-year-old man presented in a near terminal state with progressive generalized muscular weakness, gastrointestinal disturbances, and lethargy. Investigations revealed hypotension, hyponatremia, hypoglycemia, and low plasma cortisol concentration accompanied by undetectable plasma adrenocorticotropic hormone (ACTH) level. The patient died shortly after admission to hospital, with adrenocortical failure being the provisional cause of death. Autopsy disclosed profound bilateral atrophy of adrenal cortices with evidence of a mild focal inflammatory reaction. The pituitary gland appeared normal on both gross and histologic examinations. There was no histologic evidence of inflammation, fibrosis, or adenohypophysial cell hyperplasia. By immunocytochemistry, no ACTH and B-endorphin immunoreactive cells were identified in the adenohypophysis. In situ hybridization (ISH) for pro-opiomelanocortin (POMC) mRNA yielded conclusively negative results. The case presented here was regarded as isolated ACTH deficiency. Although the remaining pituitary functions were not assessed, clinical and morphologic findings strongly support the supposition that aside from ACTH deficiency, secretory function of other pituitary hormones was preserved. This is the first case in which the pituitary was studied by immunocytochemistry and ISH. The possible pathogenetic mechanisms accounting for the isolated ACTH deficiency are discussed.
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PMID:The Pituitary in Isolated ACTH Deficiency: A Histologic, Immunocytochemical, and In Situ Hybridization Study. 1211 37

A 34-year-old man with neurofibromatosis type 1, who had received radiation therapy after the excision of a brain tumor 5 years earlier, was admitted to our hospital with vomiting and weight loss. Cortisol and adrenocorticotropin (ACTH) were undetectable before and after administration of 100 microg corticotropin releasing hormone. The level of growth hormone without stimulation was 24.7 ng/ml. We diagnosed him to have complete ACTH deficiency attributable to radiation therapy. This is the first known case of a patient with complete ACTH deficiency after radiation therapy and a growth hormone reserve that remained normal.
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PMID:Complete adrenocorticotropin deficiency after radiation therapy for brain tumor with a normal growth hormone reserve. 1213 70

Tpit is a highly cell-restricted transcription factor that is required for expression of the pro-opiomelanocortin (POMC) gene and for terminal differentiation of the pituitary corticotroph lineage. Its exclusive expression in pituitary POMC-expressing cells has suggested that its mutation may cause isolated deficiency of pituitary adrenocorticotropin (ACTH). We now show that Tpit-deficient mice constitute a model of isolated ACTH deficiency (IAD) that is very similar to human IAD patients carrying TPIT gene mutations. Through genetic analysis of a panel of IAD patients, we show that TPIT gene mutations are associated at high frequency with early onset IAD, but not with juvenile forms of this deficiency. We identified seven different TPIT mutations, including nonsense, missense, point deletion, and a genomic deletion. This work defines congenital early onset IAD as a relatively homogeneous clinical entity caused by recessive transmission of loss-of-function mutations in the TPIT gene.
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PMID:Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. 1265 86

The authors report on a 44-year-old female hemodialysis (HD) patient who presented with hypercalcemia secondary to isolated adrenocorticotropic hormone (ACTH) deficiency. She had been suffering from nausea and abdominal pain caused by recurrent esophageal ulcer. Blood calcium (Ca) adjusted for serum albumin concentration was increased to 14.9 mg/dL (3.72 mmol/L) concurrently with fever and hypotension. Serum intact parathyroid hormone (PTH)-related peptide was not elevated, but serum intact PTH and 1,25-(OH)2 vitamin D3 were decreased to 31 pg/mL (ng/L) and 8.1 pg/mL (2.6 pmol/L), respectively. Endocrinologic examination found that plasma ACTH was reduced below 5.0 pg/mL (0.22 pmol/L). A single ACTH stimulation normally increased blood cortisol, whereas a single corticotropin-releasing hormone injection failed to increase plasma ACTH and cortisol. Pituitary magnetic resonance imaging disclosed no enlargement of pituitary gland. Circulating bone formation and absorption markers were not elevated. Blood Ca was normalized shortly after pamidronate disodium administration without glucocorticoid supplementation. This case suggested that secondary adrenal insufficiency caused by isolated ACTH deficiency could be an occult cause of severe hypercalcemia in HD subjects.
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PMID:Isolated adrenocorticotropic hormone deficiency presenting with hypercalcemia in a patient on long-term hemodialysis. 1290 Aug 50

The optimal means of assessing the integrity of the hypothalamic-pituitary-adrenal (HPA) axis after pituitary surgery remains controversial. We compared low-dose (1 micro g iv) and standard-dose (250 micro g im) corticotropin tests performed 1 and 4-6 wk after pituitary surgery with an insulin hypoglycemia test performed at 4-6 wk. Forty-one patients (21 male and 20 female; median age, 52 yr; range, 23-73 yr) who had undergone pituitary surgery were studied (Cushing's disease excluded). Twenty-two of the 41 patients had normal cortisol responses to all tests both at 1 and 4-6 wk after surgery. Eight patients had subnormal cortisol responses to all tests. Of the 11 patients with discrepant results, seven had subnormal responses only after the low-dose corticotropin test; the remaining four patients had borderline responses to one or more tests. At 4-6 wk after surgery, subjects with a 30-min serum cortisol after standard-dose corticotropin of less than 350 nmol/liter (12.7 micro g/dl) consistently had a subnormal response to hypoglycemia, and those with a serum cortisol greater than 650 nmol/liter (23.6 micro g/dl) had a normal response to hypoglycemia. Definitive testing of the HPA axis using the standard-dose corticotropin test can be carried out provided it is performed at least 4 wk after pituitary surgery. A 30-min cortisol level greater than 650 nmol/liter (23.6 micro g/dl) indicates adequacy of the HPA axis, and a level of less than 350 nmol/liter (12.7 micro g/dl) indicates ACTH deficiency. No further testing is then required. An intermediate level of 350-650 nmol/liter (12.7-23.6 micro g/dl) warrants further assessment using the insulin hypoglycemia test.
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PMID:Low- and standard-dose corticotropin and insulin hypoglycemia testing in the assessment of hypothalamic-pituitary-adrenal function after pituitary surgery. 1608 65

A 76-year-old man was first referred to his local hospital at the beginning of August 2005 with nausea and vomiting, and was admitted on August 15 with progressive fatigue of unknown etiology. Gastrointestinal examination was performed, but no obvious abnormalities were detected in the upper or lower digestive tract. Hematology tests also revealed no abnormalities, except for slight eosinophilia. He developed depression and was given an antidepressant agent. After suffering from hyponatremia and disorientation, he was subsequently admitted to our hospital on August 28. At that time, serum adrenocorticotropic hormone (ACTH) and cortisol levels were low, while both the ACTH and corticotrophin-releasing hormone (CRH) stress tests showed no response. Other stress tests revealed normal responses, so he was given a diagnosis isolated ACTH deficiency and received corticosteroid therapy. In summary, we report an elderly case of isolated ACTH deficiency with nonspecific initial manifestations such as nausea, fatigue, and depression.
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PMID:[Elderly case of isolated ACTH deficiency presenting with depression and digestive symptoms]. 1733 64

Growth hormone (GH) deficiency is transient in most cases of adrenocorticotropin (ACTH) deficiency, while deficiency of both selective ACTH and GH in adults, as in the present case, is rare among hypopituitarism cases. In this patient, one year after hydrocortisone replacement for ACTH deficiency, data on GH secretion by insulin tolerance test and GH-releasing peptide-2 injection showed a partial improvement, but still there was lack of an adequate response. We consider that the patient had the deficiency of both selective GH and ACTH. Therefore, careful monitoring of GH function after the glucocorticoid replacement is required in cases of ACTH deficiency.
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PMID:Deficiency of growth hormone in an adult man case of idiopathic adrenocorticotropin deficiency. 1936 57

A 69-year-old man with type 2 diabetes mellitus was admitted to our hospital because of appetite loss, nausea and vomiting. Gastroscopy revealed gastric cancer. Levels of plasma cortisol were decreased. Neither adrenocorticotropic hormone (ACTH) nor cortisol levels were adequately increased in response to a mixed intravenous administration of corticotropin-releasing hormone, growth hormone-releasing hormone, thyrotropin-releasing hormone and lutenizing hormone-releasing hormone, although other pituitary hormones were increased adequately. He was diagnosed as having isolated ACTH deficiency (IAD). Anti-pituitary antibody and anti-parietal cell antibody were positive. At least in part, these antibodies may play pathogenic roles of development of IAD and gastric cancer.
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PMID:Type 2 diabetes mellitus accompanied by isolated adrenocorticotropic hormone deficiency and gastric cancer. 1952 93

We report the case of a 55-year-old male with flexion contractures of the hips and the knees due to an isolated adrenocorticotropin (ACTH) deficiency, a rare cause of secondary adrenal insufficiency. The presenting symptoms and signs, the laboratory investigations and the treatment are described. The case description is followed by a brief overview of ACTH deficiency and its symptoms and causes. Our case is then compared with other case reports available in the literature. The aetiology of the flexion contractures in adrenal insufficiency is still unclear. The authors want to draw attention to adrenal insufficiency as the cause of unexplained flexion contractures.
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PMID:Flexion contractures in secondary adrenal insufficiency. 1979 78

Long-term morbidity for children with low-grade glioma (LGG) requires exposure-specific characterization. Overall survival (OS) and progression-free survival (PFS) were estimated for 361 children diagnosed with LGG between 1985 and 2007 at a single institution. Five-year survivors (n = 240) received risk-based clinical assessment. Cumulative incidence of late effects 15 years from diagnosis were estimated. Risk factors for adverse health were identified using Fine and Gray's approach to Cox's proportional hazards model, accounting for death as a competing risk. OS at 15 years was 86% (95% confidence interval [CI] 82%-90%), and PFS was 55% (95% CI 51%-58%). Among the 240 5-year survivors, the 5-, 10-, and 15-year cumulative incidence of adverse outcomes included blindness: 10%, 13%, and 18%, respectively; hearing loss: 8%, 14%, and 22%; obesity/overweight: 18%, 35%, and 53%; hyperinsulinism: 1%, 5%, and 24%; growth hormone deficiency: 13%, 27%, and 29%;thyroid hormone deficiency: 16%, 28%, and 33%; and adrenocorticotropic hormone (ACTH) deficiency: 12%, 22%, and 26%. Multivariable models demonstrated radiation therapy to be a significant independent predictor of hearing loss, growth hormone deficiency, abnormal thyroid function, and ACTH deficiency. Diencephalic location was a statistically significant independent risk factor for blindness, growth hormone deficiency, abnormal thyroid function, and ACTH deficiency. Among the 182 5-year survivors assessed for intellectual function, 34% had an intelligence quotient (IQ) below average (<85), associated with younger age at diagnosis, epilepsy, and shunt placement. Survivors of childhood LGG experience substantial long-term adverse effects that continue to increase well beyond the 5-year survival time point.
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PMID:Survival and long-term health and cognitive outcomes after low-grade glioma. 2117 81


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