scholarly journals Central Adrenal Insufficiency Is Rare in Adults With Prader–Willi Syndrome

2020 ◽  
Vol 105 (7) ◽  
pp. e2563-e2571 ◽  
Author(s):  
Anna G W Rosenberg ◽  
Karlijn Pellikaan ◽  
Christine Poitou ◽  
Anthony P Goldstone ◽  
Charlotte Høybye ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Outcome Measure ◽  
Tolerance Test ◽  
Pituitary Hormone ◽  
Prader Willi Syndrome ◽  
Insulin Tolerance ◽  
Synacthen Test ◽  
Central Adrenal Insufficiency ◽  
Stress Dose ◽  
Hydrocortisone Treatment

Abstract Context Prader–Willi syndrome (PWS) is associated with several hypothalamic-pituitary hormone deficiencies. There is no agreement on the prevalence of central adrenal insufficiency (CAI) in adults with PWS. In some countries, it is general practice to prescribe stress-dose hydrocortisone during physical or psychological stress in patients with PWS. Side effects of frequent hydrocortisone use are weight gain, osteoporosis, diabetes mellitus, and hypertension—already major problems in adults with PWS. However, undertreatment of CAI can cause significant morbidity—or even mortality. Objective To prevent both over- and undertreatment with hydrocortisone, we assessed the prevalence of CAI in a large international cohort of adults with PWS. As the synacthen test shows variable results in PWS, we only use the metyrapone test (MTP) and insulin tolerance test (ITT). Design Metyrapone test or ITT in adults with PWS (N = 82) and review of medical files for symptoms of hypocortisolism related to surgery (N = 645). Setting Outpatient clinic. Patients or Other Participants Eighty-two adults with genetically confirmed PWS. Main Outcome Measure For MTP, 11-deoxycortisol > 230 nmol/L was considered sufficient. For ITT, cortisol > 500 nmol/L (Dutch, French, and Swedish patients) or > 450 nmol/L (British patients) was considered sufficient. Results Central adrenal insufficiency was excluded in 81 of 82 patients. Among the 645 patients whose medical files were reviewed, 200 had undergone surgery without perioperative hydrocortisone treatment. None of them had displayed any features of hypocortisolism. Conclusions Central adrenal insufficiency is rare (1.2%) in adults with PWS. Based on these results, we recommend against routinely prescribing hydrocortisone stress-doses in adults with PWS.

scholarly journals SUN-308 Central Adrenal Insufficiency Is Rare in Adults with Prader-Willi Syndrome

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Anna G W Rosenberg ◽  
Karlijn Pellikaan ◽  
Christine Poitou ◽  
Anthony P Goldstone ◽  
Charlotte Hoybye ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Cortisol Level ◽  
Multiple Dose ◽  
Tolerance Test ◽  
Adrenal Crisis ◽  
Pituitary Hormone ◽  
Prader Willi Syndrome ◽  
Gh Treatment ◽  
Baseline Cortisol ◽  
Central Adrenal Insufficiency

Abstract Introduction: Prader-Willi syndrome (PWS) is associated with several hypothalamic-pituitary hormone deficiencies. There is no agreement on the prevalence of central adrenal insufficiency (CAI) in adults with PWS. This is partly due to the variable results of the synacthen test, compared with the more robust metyrapone test (MTP) and insulin tolerance test (ITT). In some countries, patients with PWS receive stress-dose corticosteroids during physical or psychological stress. Side effects of frequent corticosteroids use are weight gain, osteoporosis, diabetes mellitus and hypertension, already major problems in adults with PWS. However, undertreatment of CAI can cause significant morbidity or even mortality. To prevent over- and undertreatment with corticosteroids, we assessed the prevalence of CAI in a large international cohort of adults with this rare disorder. Methods: The hypothalamic-pituitary-adrenal axis was tested in 81 adult subjects (55 Dutch, 10 British, 10 French, 6 Swedish) with genetically confirmed PWS. For multiple-dose MTP, 11-deoxycortisol >230 nmol/L (7.6 g/dL) was considered sufficient. For Dutch, French and Swedish patients who underwent ITT, cortisol >500 nmol/L (18.1 μg/dL) was considered sufficient. For British patients cortisol >450 nmol/L (16.3 μg/dL) was considered sufficient, as this center used a different assay. Additionally, we reviewed medical files of 645 adults with PWS from Italy (240), France (110), the Netherlands (110), Australia (60), Spain (45), Sweden (38) and the United Kingdom (42) for symptoms of hypocortisolism/adrenal crisis during surgery. Results: Data on 81 adult subjects (46 males and 35 females), median age (range) 25.2 yr (18.0 – 55.5), median BMI (range) 29.1 kg/m2 (20.0 – 62.0), with genetically confirmed PWS were collected. 33 subjects (41%) were using GH treatment since childhood. Multiple-dose MTP was performed in 45 subjects and ITT in 36 subjects. Both tests were well tolerated by all individuals. CAI was excluded in 80 of 81 patients. One patient with a peak cortisol level of 494 nmol/L (just below cut-off level of 500 nmol/L) was prescribed hydrocortisone for use during physical stress. There was no relation between baseline cortisol and ITT/multiple-dose MTP results. Even patients with a low baseline cortisol level (lowest: 102.0 nmol/L) had normal responses. Among the 645 patients whose medical files were reviewed, 200 had undergone surgery without perioperative corticosteroids treatment. None of them displayed any features of hypocortisolism/adrenal crisis. Conclusions: CAI is rare (1.2%) in adults with PWS. Based on these results, we recommend against routinely prescribing corticosteroids stress-doses in adults with PWS. Funding: CZ foundation.

scholarly journals Case Series: Four Cases of Anorexia Nervosa Concomitant with Central Adrenal Insufficiency

2021 ◽  
Author(s):  
Sunao Matsubayashi ◽  
Madoka Tanaka ◽  
Takeshi Hara
Keyword(s):  
Anorexia Nervosa ◽  
Adrenal Insufficiency ◽  
Case Series ◽  
Addison’S Disease ◽  
Tolerance Test ◽  
Addison's Disease ◽  
Level Of Evidence ◽  
Insulin Tolerance ◽  
History Of ◽  
Central Adrenal Insufficiency

Abstract Objective: Widespread attention has been paid to the misdiagnosis of life-threatening Addison's disease as anorexia nervosa. However, there are no reports on the possible comorbidity of Addison's disease and other adrenal insufficiencies with anorexia nervosa.Methods: A case-series presentation of anorexia nervosa concomitant with central adrenal insufficiency.Results: Four anorexia nervosa patients (21-35 years old, all females) complained of severe fatigue during their treatment. After a thorough examination of the hypothalamus-pituitary-adrenal axis using stimulation with a rapid adenocorticotropic hormone test of 250-µg Cortrosyn®, a corticotropin-releasing hormone test, and an insulin tolerance test, central adrenal insufficiency was diagnosed. Two of the four patients had a history of exogenous steroids for their history of comorbidity. One of the residual two patient had Rathke’s cleft cyst. After the initiation of hydrocortisone replacement the patient's fatigue symptoms improved and they　were able to return to school and their workplace. In some cases, their weight obsession was reduced after the initiation of hydrocortisone replacement.Conclusion: Anorexia nervosa may be concomitant with central adrenal insufficiency partly in relation to exogenous steroids used for their history of comorbidity, which needs to be kept in mind when treating such patients.Level of EvidenceLevel V, descriptive study.

scholarly journals High Risk of Adrenal Insufficiency in Adults Previously Treated for Idiopathic Childhood Onset Growth Hormone Deficiency

2003 ◽  
Vol 88 (12) ◽  
pp. 5784-5789 ◽  
Author(s):  
Martin Lange ◽  
Ulla Feldt-Rasmussen ◽  
Ole Lander Svendsen ◽  
Knud William Kastrup ◽  
Anders Juul ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Gh Deficiency ◽  
Tolerance Test ◽  
Hormone Deficiency ◽  
Childhood Onset ◽  
Gh Treatment ◽  
Insulin Tolerance ◽  
Igf I ◽  
Synacthen Test ◽  
Previously Treated

Abstract The aim was to reevaluate a group of adults treated for idiopathic childhood onset GH deficiency (GHD) after 18 yr without GH treatment. Twenty-six (11 females) patients participated. All but two had isolated GHD. Childhood diagnosis was established by insulin tolerance test (ITT). The patients were retested with an ITT to evaluate adult GH status. In five patients, an arginine and a synacthen test were performed instead of an ITT. Eleven of 25 patients had a subnormal cortisol response to ITT or synacthen. Ten patients had a GH peak less than 3.0 μg/liter (0.5. ± 0.5 μg/liter), whereas 16 patients displayed a normal GH response (12.3 ± 10.6 μg/liter) after ITT. IGF-I values were decreased in the patients with a pathological retest as well as in patients with a normal GH response compared with controls (P < 0.005). In 26 idiopathic childhood onset GHD patients, 44% of the patients had developed adrenal insufficiency; 38.5% had persistent GHD in adulthood, using the same test in both childhood and adulthood. Patients having a normal GH test had decreased IGF-I levels, compared with controls, indicating impaired function of a seemingly normal GH axis. It is imperative that pituitary axes other than the GH axis are tested at regular intervals, even in the absence of GHD in adulthood.

scholarly journals Normal Cortisol Response to High-Dose Synacthen and Insulin Tolerance Test in Children and Adults with Prader-Willi Syndrome

2011 ◽  
Vol 96 (1) ◽  
pp. E173-E180 ◽  
Author(s):  
Stense Farholt ◽  
Rasmus Sode-Carlsen ◽  
Jens Sandahl Christiansen ◽  
John R. Østergaard ◽  
Charlotte Høybye
Keyword(s):  
Hpa Axis ◽  
Genetic Diagnosis ◽  
Tolerance Test ◽  
Insulin Tolerance Test ◽  
High Dose ◽  
Prader Willi Syndrome ◽  
University Hospitals ◽  
Insulin Tolerance ◽  
Synacthen Test ◽  
Clinically Significant

Context: Prader-Willi syndrome (PWS) is a genetic disease associated with hypogonadism and partial GH insufficiency, possibly explained in part by a hypothalamic dysfunction. Partial insufficiency of the hypothalamic-pituitary-adrenal (HPA) axis has recently been suggested. Objective: The objective of the study was to further explore the HPA axis in PWS by use of routine tests. Design: Nonselected PWS patients were examined with a standard high-dose synacthen test or the insulin tolerance test (ITT). A random serum (s) cortisol was measured in case of acute illness. Setting: The study was conducted at university hospitals in Denmark and Sweden. Patients: Sixty-five PWS patients with a confirmed genetic diagnosis participated in the study. Main Outcome Measures: A s-cortisol value above 500 nmol/liter as well as an increase of 250 nmol/liter or greater was considered a normal response. Results: Fifty-seven PWS patients (median age 22 yr, total range 0.5–48 yr) were examined with the high-dose synacthen test. The median s-cortisol at the time of 30 min was 699 (474–1578) nmol/liter. Only one patient had a s-cortisol level below 500 nmol/liter but an increase of 359 nmol/liter. This patient subsequently showed a normal ITT response. Two patients had increases less than 250 nmol/liter but a time of 30-min s-cortisol values of 600 nmol/liter or greater. These three patients were interpreted as normal responders. Eight patients [aged 26 (16–36) yr] examined with the ITT had a median peak s-cortisol of 668 (502–822) nmol/liter. Four children admitted for acute illnesses had s-cortisol values ranging from 680 to 1372 nmol/liter. Conclusion: In this PWS cohort, the function of the HPA axis was normal, suggesting that clinically significant adrenal insufficiency in PWS is rare.

No central adrenal insufficiency found in adults with prader-willi syndrome tested by multiple dose metyrapone test

2019 ◽  
Author(s):  
Anna Rosenberg ◽  
Karlijn Pellikaan ◽  
Kirsten Davidse ◽  
Stephany Donze ◽  
Anita Hokken-Koelega ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Multiple Dose ◽  
Prader Willi Syndrome ◽  
Central Adrenal Insufficiency

scholarly journals SAT-446 No Central Adrenal Insufficiency Found in Adults with Prader-Willi Syndrome Tested by Multiple-Dose Metyrapone Test

2019 ◽  
Vol 3 (Supplement_1) ◽  
Author(s):  
Kirsten Davidse ◽  
Anna Rosenberg ◽  
Karlijn Pellikaan ◽  
Stephany Donze ◽  
Anita Hokken-Koelega ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Multiple Dose ◽  
Prader Willi Syndrome ◽  
Central Adrenal Insufficiency

scholarly journals Update on the diagnosis of GH deficiency in adults

2003 ◽  
pp. S3-S8 ◽  
Author(s):  
R Abs
Keyword(s):  
Gh Deficiency ◽  
Tolerance Test ◽  
Cranial Irradiation ◽  
Pituitary Hormone ◽  
Childhood Onset ◽  
Gh Secretion ◽  
Insulin Tolerance ◽  
Stimulation Tests ◽  
History Of ◽  
Considerable Morbidity

GH deficiency (GHD) in adults is associated with considerable morbidity and mortality. The diagnosis of GHD is generally straightforward in children as growth retardation is present; however, in adults, diagnosis of GHD is often challenging. Other markers are therefore needed to identify adults who have GHD and could potentially benefit from GH replacement therapy. Consensus guidelines for the diagnosis and treatment of adult GHD recommend provocative testing of GH secretion for patients who have evidence of hypothalamic-pituitary disease, patients with childhood-onset GHD, and patients who have undergone cranial irradiation or have a history of head trauma. Suspicion of GHD is also heightened in the presence of other pituitary hormone deficits. Tests for GHD include measurement of the hormone in urine or serum or measurement of stimulated GH levels after administration of various provocative agents. The results of several studies indicate that non-stimulated serum or urine measurements of GH levels cannot reliably predict deficiency in adults. Although glucagon and arginine tests produce a pronounced GH response with few false positives, the insulin tolerance test (ITT) is currently considered to be the gold standard of the GH stimulation tests available. Unfortunately, the ITT has some disadvantages and questionable reproducibility, which have prompted the development of several new tests for GHD that are based on pharmacological stimuli. Of these, GH-releasing hormone (GHRH) plus arginine and GHRH plus GH-releasing peptide (GHRP) appear to be reliable and practical. Thus, in cases where ITT is contraindicated or inconclusive, the combination of arginine and GHRH is an effective alternative. As experience with this test as well as with GHRH/GHRP-6 accumulates, they may supplant ITT as the diagnostic test of choice.

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