scholarly journals ARMC5 Alterations in Primary Macronodular Adrenal Hyperplasia (PMAH) and the Clinical State of Variant Carriers

2019 ◽  
Vol 3 (10) ◽  
pp. 1837-1846 ◽  
Author(s):  
Chika Kyo ◽  
Takeshi Usui ◽  
Rieko Kosugi ◽  
Mizuki Torii ◽  
Takako Yonemoto ◽  
...  
Keyword(s):  
Cortisol Level ◽  
Japanese Patients ◽  
Pathogenic Variant ◽  
Adrenal Hyperplasia ◽  
Positive Group ◽  
Second Hit ◽  
Pathogenic Variants ◽  
Basal Cortisol ◽  
Tumor Tissues ◽  
Basal Cortisol Level

Abstract Context Primary macronodular adrenal hyperplasia (PMAH) is a rare type of Cushing or subclinical Cushing syndrome and is associated with bilateral multinodular formation. ARMC5 is one of the responsible genes for PMAH. Objectives This study was performed to identify the genotype-phenotype correlation of ARMC5 in a cohort of Japanese patients. Patients and Methods Fourteen patients with clinically diagnosed PMAH and family members of selected patients were studied for ARMC5 gene alteration and clinical phenotype. The associated nonadrenal tumor tissues were also studied. Results Of fourteen patients with PMAH, 10 had pathogenic or likely pathogenic variants of ARMC5. We found two variants. Five unrelated patients had identical variants (p.R619*). In two patients, the variant was found in offspring with the asymptomatic or presymptomatic state. Six of ten patients who tested positive for the ARMC5 pathogenic or likely pathogenic variant carried nonadrenal tumors; however, no loss of heterozygosity (LOH) or second hit of the ARMC5 gene was evident. The ARMC5 variant–positive group showed a significantly higher basal cortisol level. Furthermore, age-dependent cortisol hypersecretion was seen in the ARMC5 variant–positive group. Conclusions ARMC5 pathogenic variants are common (71%) in Japanese patients with PMAH. p.R619* might be a hot spot in Japanese patients with PMAH. Asymptomatic or presymptomatic pathogenic variant carriers were found among the family members of the patients. Although 50% of ARMC5 variant carriers had nonadrenal neoplastic lesions, no LOH or second hit of ARMC5 in the tumor tissues was evident. The ARMC5 variant–positive mutant group showed a higher basal cortisol level than the negative group.

Elevated basal cortisol level predicts lower hippocampal volume and cognitive decline in Alzheimer’s disease

2009 ◽  
Vol 16 (10) ◽  
pp. 1283-1286 ◽  
Author(s):  
Chi-Wei Huang ◽  
Chun-Chung Lui ◽  
Weng-Neng Chang ◽  
Cheng-Hsien Lu ◽  
Ya-Ling Wang ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cognitive Decline ◽  
Cortisol Level ◽  
Hippocampal Volume ◽  
Basal Cortisol ◽  
Basal Cortisol Level

One microgram is the lowest ACTH dose to cause a maximal cortisol response. There is no diurnal variation of cortisol response to submaximal ACTH stimulation

1997 ◽  
pp. 172-175 ◽  
Author(s):  
G Dickstein ◽  
D Spigel ◽  
E Arad ◽  
C Shechner
Keyword(s):  
Diurnal Variation ◽  
Cortisol Level ◽  
Low Dose ◽  
Cortisol Response ◽  
Acth Stimulation ◽  
Baseline Cortisol ◽  
Maximal Stimulation ◽  
Basal Cortisol ◽  
Basal Cortisol Level ◽  
Cortisol Responses

There are many suggestions in the literature that the adrenal gland is more sensitive to ACTH in the evening than in the morning. However, all these studies in humans were conducted when the basal cortisol level was not suppressed, and were based on the observation that, after stimulation, the increases in cortisol differed, though the peak values were the same. To examine this, we established the lowest ACTH dose that caused a maximal cortisol stimulation even when the basal cortisol was suppressed, and used a smaller dose of ACTH for morning and evening stimulation. The lowest ACTH dose to achieve maximal stimulation was found to be 1.0 microgram, with which dose cortisol concentration increased to 607.2 +/- 182 nmol/l, compared with 612.7 +/- 140.8 nmol/l with the 250 micrograms test (P > 0.3). The use of smaller doses of ACTH (0.8 and 0.6 microgram) achieved significantly lower cortisol responses (312 +/- 179.4 and 323 +/- 157.3 nmol/l respectively; both P < 0.01 compared with the 1 microgram test). When a submaximal ACTH dose (0.6 microgram) was used to stimulate the adrenal at 0800 and 1600 h, after pretreatment with dexamethasone, no difference in response was noted at either 15 min (372.6 +/- 116 compared with 394.7 +/- 129.7 nmol/l) or 30 min (397.4 +/- 176.6 compared with 403 +/- 226.3 nmol/l; P > 0.3 for both times). These results show that 1.0 microgram ACTH, used latterly as a low-dose test, is very potent in stimulating the adrenal, even when baseline cortisol is suppressed; smaller doses cause reduction of this potency. Our data show that there is probably no diurnal variation in the response of the adrenal to ACTH, if one eliminates the influence of the basal cortisol level and uses physiologic rather than superphysiologic stimuli.

Reproducibility of the cortisol response to stimulation with a low dose of ACTH(1–24): the effect of basal cortisol levels and comparison of low-dose with high-dose secretory dynamics

1993 ◽  
Vol 136 (1) ◽  
pp. 167-172 ◽  
Author(s):  
S. Crowley ◽  
P. C. Hindmarsh ◽  
J. W. Honour ◽  
C. G. D. Brook
Keyword(s):  
Cortisol Level ◽  
Low Dose ◽  
Standard Dose ◽  
Serum Cortisol ◽  
Cortisol Concentration ◽  
Acth Stimulation ◽  
Basal Cortisol ◽  
Basal Cortisol Level ◽  
Adrenal Response ◽  
Serum Cortisol Concentration

ABSTRACT We compared the reproducibility and repeatability of the acute adrenal response to low doses (90 and 500 ng/1·73 m2) of Synacthen (ACTH(1–24)) with that of the standard dose (250 μg/1·73 m2). We also examined the effect of basal cortisol levels on peak values achieved after stimulation with a low dose. ACTH(1–24) was given to six male volunteers: 90 ng/1·73 m2 twice at 90-min intervals on day 1, and 90 and 500 ng/1·73 m2 once on day 2 and 250 μg/1·73 m2 once on day 3. The rise in serum cortisol concentration with repeated low doses of ACTH was not attenuated (161 ± 49 (s.d.) nmol/l on initial vs 150 ± 41 nmol/l on repeat stimulation; P = 0·5) and this was reproducible (161 ± 49 nmol/l on day 1 vs 148 ± 15 nmol/l on day 2; P = 0·6). A dose of 500 ng ACTH(1–24)/1·73 m2 produced a maximal adrenal response in that the rise in serum cortisol concentration at 20 min was identical with that produced at the same time by the standard dose of 250 μg/1·73 m2. There was a strong positive correlation between the basal cortisol level and peak cortisol concentration after low-dose ACTH stimulation (r = 0·93, P < 0·001) but not between the basal cortisol level and the incremental rise (r= −0·1, P = 0·69). These results suggest that the cortisol response to low-dose ACTH stimulation is reproducible and not attenuated by repeat stimulation at 90-min intervals. The incremental rise in serum cortisol concentration after ACTH stimulation appears constant in these situations and is not influenced by the basal cortisol level. When there is concern that the standard dose may be excessive and mask subtle but important changes in adrenal function, the low dose (500 ng) of ACTH should be used. Journal of Endocrinology (1993) 136, 167–172

scholarly journals Diagnostic performance of basal cortisol level at 0900-1300h in adrenal insufficiency

PLoS ONE ◽  
2019 ◽  
Vol 14 (11) ◽  
pp. e0225255 ◽  
Author(s):  
Worapaka Manosroi ◽  
Mattabhorn Phimphilai ◽  
Jiraporn Khorana ◽  
Pichitchai Atthakomol
Keyword(s):  
Adrenal Insufficiency ◽  
Cortisol Level ◽  
Diagnostic Performance ◽  
Basal Cortisol ◽  
Basal Cortisol Level

Adrenal insufficiency with chronic hyponatraemia and normal basal cortisol level: time to review the investigation of hyponatraemia

2021 ◽  
Author(s):  
Mansukhbhai Shekhda Kalyan ◽  
Maria Darda ◽  
Syed Bitat ◽  
Ali Rathore ◽  
Taofeek Ojewuyi ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Cortisol Level ◽  
Basal Cortisol ◽  
Basal Cortisol Level

scholarly journals Comprehensive Genetic Testing of CYP21A2: A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia

2021 ◽  
Vol 10 (6) ◽  
pp. 1183
Author(s):  
Madalina Nicoleta Nan ◽  
Rosa Roig ◽  
Susana Martínez ◽  
Jose Rives ◽  
Eulàlia Urgell ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Point Mutations ◽  
Gene Mutations ◽  
Pathogenic Variant ◽  
Adrenal Hyperplasia ◽  
Cyp21a2 Gene ◽  
Pathogenic Variants ◽  
New Variant ◽  
Allelic Distribution ◽  
Large Rearrangements

The most common form of congenital adrenal hyperplasia (CAH) results from a deficiency of the 21-hydroxylase enzyme (21-OHD), presenting with a broad spectrum of clinical phenotypes according to the CYP21A2 gene mutations. Of the 59 patients with suspected CAH, 62.7% presented a positive genetic result. Of them, 78.4% and 18.9% presented with non-classical and classical forms, respectively. An overall phenotype-genotype correlation of 88.9% was observed. Biochemically, 17-hydroxiprogesterone concentrations were significantly higher in genetically confirmed patients. Genetically, 36 patients presented with previously reported pathogenic variants, and one presented a new variant in homozygosis. Among the 74 alleles tested, point mutations were found in 89.2% and large rearrangements were found in the rest. The most prevalent pathogenic variant was p.(Val282Leu). The inclusion of relatives revealed one further case. Interestingly, 87.5% of relatives were carriers of a pathogenic variant, including two siblings initially classified as genetically positive. In addition, the study of male partners with gestational desire identified several carriers of mild mutations. Studying the allelic distribution of the variants also allowed for reclassifying one patient. In conclusion, a genetic approach including Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA) analysis, and allelic distribution of the pathogenic variants represents a beneficial tool for better classifying patients with 21-OHD.

Study of effect of whitening creams on serum basal cortisol level in egyptian females

2020 ◽  
Author(s):  
Hany Khairy ◽  
Yara Eid ◽  
Iman Zaky ◽  
Merhan Samy ◽  
Mohammed Omar
Keyword(s):  
Cortisol Level ◽  
Basal Cortisol ◽  
Basal Cortisol Level

scholarly journals Dissociative symptom and basal cortisol level in patients with PTSD

IBRO Reports ◽  
2019 ◽  
Vol 6 ◽  
pp. S389-S390
Author(s):  
Dongil Min ◽  
Seung Yeon Baik ◽  
Aeran Kwon ◽  
Min Jin Jin ◽  
Yourim Kim ◽  
...  
Keyword(s):  
Cortisol Level ◽  
Basal Cortisol ◽  
Basal Cortisol Level ◽  
Dissociative Symptom

scholarly journals Boldness Predicts Aggressiveness, Metabolism, and Activity in Black Rockfish Sebastes schlegelii

2021 ◽  
Vol 8 ◽  
Author(s):  
Yiqiu Fu ◽  
Zonghang Zhang ◽  
Zhen Zhang ◽  
Fengyuan Shen ◽  
Xiuwen Xu ◽  
...  
Keyword(s):  
Locomotor Activity ◽  
Metabolic Rate ◽  
Cortisol Level ◽  
Standard Metabolic Rate ◽  
Fish Welfare ◽  
Black Rockfish ◽  
Beat Rate ◽  
Basal Cortisol ◽  
Sebastes Schlegelii ◽  
Basal Cortisol Level

Animal personality refers to individual behavioral and physiological differences that are consistent over time and across context. Recently, the fish personality has gained increasing attention, especially from the perspective of aquaculture production. Here, we used an important aquaculture species, black rockfish Sebastes schlegelii, as the target animal, and conducted a series of experiments to explore the relationships among fish boldness, aggressiveness, locomotor activity, opercular beat rate, standard metabolic rate, and cortisol level. Generally, the results showed that the boldness of black rockfish was significantly, positively correlated with fish aggressiveness, stressed locomotor activity, and standard metabolic rate, while was negatively correlated with stressed opercular beat rate. Bold fish had significantly higher aggressiveness, standard metabolic rate, and stressed locomotor activity but lower stressed opercular beat rate. However, there were no significant correlations between boldness and basal locomotor activity or between boldness and basal cortisol level. These results preliminarily constructed the behavioral and physiological spectrum of black rockfish in the context of fish personality and clearly indicated that the boldness could be used as a discrimination tool to predict fish aggressiveness and metabolic rate, which may have valuable applications for decreasing fish harmful aggression and increasing fish welfare in the aquaculture industry.

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