Variations in the management of acute illness in children with congenital adrenal hyperplasia: An audit of three paediatric hospitals

Chrisp, Georgina L; Maguire, Ann; Quartararo, Maria; Falhammar, Henrik; King, Bruce R.; Munns, Craig F; Torpy, David J.; Hameed, Shihab A.; Rushworth, R. Louise

doi:10.1111/cen.13826

Cited by 21 publications

(28 citation statements)

References 26 publications

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“…However, in this population, self-management strategies were either not executed at all or implemented in a way that would be potentially ineffective. This is consistent with the levels of preparedness reported in other populations [20, 21], but is in contrast to the higher use of IM hydrocortisone by children with congenital adrenal hyperplasia attending the pediatric hospital on the same campus for treatment of an acute illness [22]. In the current study, among patients who were vomiting, only a minority (27.5%) reported some form of stress dosing and, among those who did, only five used IM hydrocortisone.…”

Section: Discussionsupporting

confidence: 88%

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Prehospital Management of Acute Addison Disease: Audit of Patients Attending a Referral Hospital in a Regional Area

Goubar

Torpy

McGrath

et al. 2019

Journal of the Endocrine Society

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Context Adrenal crisis (AC) causes morbidity and mortality in patients with Addison disease [primary adrenal insufficiency (PAI)]. Patient-initiated stress dosing (oral or parenteral hydrocortisone) is recommended to avert ACs. Although these should be effective, the continued incidence of ACs remains largely unexplained. Methods Audit of all attendances between 2000 and 2017 of adult patients with treated PAI to one large regional referral center in New South Wales, Australia. Measurements were those taken on arrival at hospital. Results There were 252 attendances by 56 patients with treated PAI during the study period. Women comprised 60.7% (n = 34) of the patients. The mean age of attendees was 53.7 (19.6) years. Nearly half (45.2%, n = 114) of the patients had an infection. There were 61 (24.2%) ACs diagnosed by the treating clinician. Only 17.9% (n = 45) of the hospital presentations followed any form of stress dosing. IM hydrocortisone was used prior to presentation 7 (2.8%) attendances only. Among patients with a clinician-diagnosed AC, only 32.8% (n = 20) had used stress dosing before presentation. Vomiting was reported by 47.6% (n = 120) of the patients but only 33 (27.5%) of these attempted stress dosing and 5 patients with vomiting used IM hydrocortisone. The number of prior presentations was an independent predictor of use of stress doses [1.05 (1.01, 1.09)]. Conclusion Dose-escalation strategies are not used universally or correctly by unwell patients with PAI; many patients do not use IM or subcutaneous hydrocortisone injections. Previous hospital treatment increases the likelihood of stress dosing, and hospital attendance offers the opportunity for reinforcement of prevention strategies.

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Section: Discussionsupporting

confidence: 88%

“…In this study, a positive effect of cumulative previous presentations to hospital on the use of stress dosing was identified. This phenomenon has been found previously and indicates that there may be an experiential component to the development of stress dosing expertise among patients with AI [22].…”

Section: Discussionsupporting

confidence: 76%

Prehospital Management of Acute Addison Disease: Audit of Patients Attending a Referral Hospital in a Regional Area

Goubar

Torpy

McGrath

et al. 2019

Journal of the Endocrine Society

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“…There is little evidence on the occurrence of adverse events (sick day episodes and adrenal crises) in children with CAH from large multi-centre cohort studies. Data on the frequency of adverse events in adrenal insufficiency have been collected in different settings such as local centres [33] as well as at a national level [34]. The I-DSD and I-CAH Registries provide an ideal platform for the study of core clinical outcomes at a global level, with the overall aim of better informing the clinical and patient community and laying a foundation for which future studies can target interventions aimed at improving the quality of life of children with CAH.…”

Section: Examples Of How Studying Rare Conditions Such As Dsd and Camentioning

confidence: 99%

The Role of International Databases in Understanding the Aetiology and Consequences of Differences/Disorders of Sex Development

Ali

Lucas‐Herald

Bryce

et al. 2019

IJMS

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The International Disorders of Sex Development (I-DSD) and International Congenital Adrenal Hyperplasia registry (I-CAH) Registries were originally developed over 10 years ago and have since supported several strands of research and led to approximately 20 peer-reviewed publications. In addition to acting as an indispensable tool for monitoring clinical and patient-centered outcomes for improving clinical practice, the registries can support a wide nature of primary and secondary research and can also act as a platform for pharmacovigilance, given their ability to collect real world patient data within a secure, ethics approved virtual research environment. The challenge for the future is to ensure that the research community continues to use the registries to improve our understanding of Disorders of Sex Development (DSD).

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“…A correlation with the severity of epinephrine production and the different classic CAH genotype groups has been demonstrated in both children and adults (4,5), but the adrenomedullary function in NCAH was not significantly different from that in normal controls (6). Hence, individuals with NCAH should not be at increased risk of developing hypoglycaemia (7,8).…”

Section: Introductionmentioning

confidence: 98%

MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency

Nordenström

Falhammar

2019

European Journal of Endocrinology

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129

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Non-classic congenital adrenal hyperplasia (NCAH) is a relatively common disorder regardless of ethnicity, but most cases are never diagnosed, especially in males. A baseline 17-hydroxyprogesterone measurement may be used for screening, but 17-hydroxyprogesterone measurement after ACTH stimulation is the gold standard. We advocate a CYP21A2 mutation analysis to verify the diagnosis, for genetic counselling and for better prognostic and treatment guidance. Most patients are diagnosed in adolescence and adult life with hirsutism, acne, a PCOS-like picture and fertility issues. Many men with NCAH never seek medical attention and escape diagnosis. Although treatment is somewhat controversial, an early diagnosis and start of treatment may have positive implications on growth and be relevant for preventing and ameliorating the symptoms and consequences of androgen excess that develop over time, including fertility issues. Long-term treatment with glucocorticoids will improve the androgen symptoms but may result in long-term complications, such as obesity, insulin resistance, hypertension, osteoporosis and fractures. The glucocorticoid doses should be kept low. However, complications seen in NCAH, assumed to be caused by the glucocorticoid treatment, may also be associated with long-term androgen exposure. Oral contraceptive pills are a common treatment option for young females with NCAH. Regular clinical monitoring to improve the clinical outcome is recommended. It is important to acknowledge that glucocorticoid treatment will lead to secondary cortisol insufficiency and the need for stress dosing. Studies focusing on the specific difficulties patients with NCAH face, both those with a late clinical diagnosis and those with a neonatal diagnosis obtained by screening, are warranted.

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Variations in the management of acute illness in children with congenital adrenal hyperplasia: An audit of three paediatric hospitals

Cited by 21 publications

References 26 publications

Prehospital Management of Acute Addison Disease: Audit of Patients Attending a Referral Hospital in a Regional Area

Prehospital Management of Acute Addison Disease: Audit of Patients Attending a Referral Hospital in a Regional Area

The Role of International Databases in Understanding the Aetiology and Consequences of Differences/Disorders of Sex Development

MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency

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