Adrenal crises in children with adrenal insufficiency: epidemiology and risk factors

Eyal, Ori; Levin, Yotam; Oren, Asaf; Zung, Amnon; Rachmiel, Marianna; Landau, Zohar; Schachter-Davidov, Anita; Segev-Becker, Anat; Weintrob, Naomi

doi:10.1007/s00431-019-03348-1

Cited by 37 publications

(42 citation statements)

References 39 publications

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“…The rate of adrenal crisis and its associated mortality in the paediatric population in Israel is low. 8 However, in our tertiary centre, we observed an increase in the number of referrals for endocrine consultation from paediatricians in the community and from various hospital departments regarding the process of tapering-off of steroids and stress dosing. In the absence of international and local guidelines for appropriate corticosteroid usage, paediatricians often rely upon the expert opinion of endocrinologists for management of their steroid-treated patients.…”

Section: Backg Rou N Dmentioning

confidence: 78%

“…The rate of adrenal crisis and its associated mortality in the paediatric population in Israel is low 8 . However, in our tertiary centre, we observed an increase in the number of referrals for endocrine consultation from paediatricians in the community and from various hospital departments regarding the process of tapering‐off of steroids and stress dosing.…”

Section: Introductionmentioning

confidence: 74%

“…A physiological source of stress, such as an illness or surgery, can precipitate an adrenal crisis and has lethal consequences because of failure to increase cortisol secretion. Despite the fact that adrenal crisis is a preventable complication, it continues to be reported in children 6‐8 . Unfortunately, the published literature regarding chronic corticosteroids therapy and transient adrenal insufficiency lacks uniformity in definitions (biochemical vs clinical adrenal insufficiency), cortisol assays and cut‐offs, duration, route and dose of administration rendering the task of proposing consensus guidelines challenging if not impossible.…”

Section: Introductionmentioning

confidence: 99%

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Paediatricians' practices and knowledge of corticosteroids: A national survey

et al. 2020

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Aim To explore corticosteroid prescription practices and knowledge among paediatricians. Methods The Paediatricians Corticosteroids Survey, a cross‐sectional, web‐based survey distributed to Israeli paediatricians between February and July 2018. Results Three hundred and forty‐nine paediatricians (105 general paediatricians, 207 subspecialists and 37 paediatric endocrinologists) participated. Two hundred and three (58.2%) had >10 years of paediatric clinical experience and treated >60 patients/wk on average, 175/318 (55%) prescribed corticosteroids to >10% of their patients. On knowledge items, 11/266 (4.1%) responded ‘not sure’ when tapering of steroids is required, 22/268 (8.2%) to what ‘stress dose’ meant and 27/268 (10.1%) when a stress dose is required. Multivariate linear analysis showed higher scores were associated with training in paediatric endocrinology (β = 2.271, P = 0.032); medical practice only in a subspecialty (β = 1.909, P = 0.041) or in both general paediatrics and a subspecialty (β = 2.023, P = 0.014), compared to general paediatrics alone and medical studies in Israel (β = 1.059, P = 0.035). Overall, 96.2% thought continued medical education (CME) sessions would be helpful. Conclusion Our findings suggest that despite clinical experience with corticosteroid usage, respondents demonstrated gaps in knowledge for potentially life‐threatening situations. Corticosteroid‐based CME programs are warranted to improve paediatricians' knowledge and patient management.

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Section: Backg Rou N Dmentioning

confidence: 78%

Section: Introductionmentioning

confidence: 74%

Section: Introductionmentioning

confidence: 99%

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Paediatricians' practices and knowledge of corticosteroids: A national survey

et al. 2020

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“…In clinical practice, the differential diagnosis and management of paediatric PAI are quite challenging [4]. Ori Eyal and colleagues reviewed the epidemiology and risk factors for adrenal crises in children with adrenal insu ciency (AI) between 1990 and 2017 at four Israeli paediatric endocrinology units and found that diagnosis and long-term management of paediatric patients remained a challenge [5]. Adrenal crises are life-threatening emergencies, but studies on the rate and risk factors for adrenal crises in children with AI are scarce [5].…”

Section: Introductionmentioning

confidence: 99%

“…Ori Eyal and colleagues reviewed the epidemiology and risk factors for adrenal crises in children with adrenal insu ciency (AI) between 1990 and 2017 at four Israeli paediatric endocrinology units and found that diagnosis and long-term management of paediatric patients remained a challenge [5]. Adrenal crises are life-threatening emergencies, but studies on the rate and risk factors for adrenal crises in children with AI are scarce [5]. Currently, the exact cause of more than 5% of paediatric PAI cases is undetermined despite continual detection of novel genetic causes [6].…”

Section: Introductionmentioning

confidence: 99%

Genetic Aetiology of Primary Adrenal Insufficiency in Chinese Children

Chang

Lü

Zhao

et al. 2020

Preprint

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Background: Primary adrenal insufficiency (PAI) is a life-threatening condition, and a definitive aetiological diagnosis is essential for management and prognostication. We conducted this study to investigate the genetic aetiologies of PAI in South China and explore their clinical features.Methods: Seventy children were enrolled. Clinical information was collected, and combined genetic tests were performed according to the children’s manifestations. Statistical analysis was performed among the different groups. In silico or in vitro experiments were applied to determine the pathogenicity of novel variants.Results: Among the 70 children, 84.29% (59/70) were diagnosed with congenital adrenal hyperplasia (CAH), and a diagnosis of 21-hydroxylase deficiency (21-OHD) was subsequently genetically confirmed in 91.53% of the cases. Salt wasting (SW), simple virilization (SV), and non-classic (NC) CAH accounted for 66.10% (39/59), 30.51% (18/59), and 3.39% (2/59) of the cases, respectively. Interestingly, 17-hydroxyprogesterone (17-OHP) and testosterone levels in females were significantly higher than those in males among both SW and SV CAH patients. Additionally, 15.71% (11/70) of the patients were diagnosed with PAI, 72.73% (8/11) of whom had positive genetic findings. Among all the cases, two novel variants in CYP21A2, c.833dupT (p.279GfsX17) and c.651+2T>G, were harboured by CAH patients. A microdeletion (Xp21.2-21.3) and five novel variants, including 2 in the NR0B1 gene (p.108S>X, p.L411Vfs*6, c.1231_1234delCTCA, p.L411Vfs*6), 2 in the AAAS gene (c.399+1G>A, p.V103Afs*8, c.250delT, p.W84Gfs*10) and 1 in the NNT gene (p.I758Mfs*10), were detected. The novel variant c.399+1G>A in the AAAS gene was further confirmed to lead to exon 4 deletion in mRNA transcription and produce a truncated ALADIN protein.Conclusions: We found ethnic differences in the CYP21A2 gene variant spectrum among different study populations. Female 21-OHD patients tended to have higher 17-OHP and testosterone levels, which warrants caution in relation to the virilization effect both physically and psychologically. Novel gene variants detected in the CYP21A2, NR0B1, AAAS and NNT genes expanded the genetic spectrum of paediatric PAI; however, further improvement of genetic testing tools beyond our protocol is still needed to uncover the complete aetiology of PAI in children.

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