Longitudinal Assessment of Illnesses, Stress Dosing, and Illness Sequelae in Patients With Congenital Adrenal Hyperplasia

El‐Maouche, Diala; Hargreaves, Courtney J; Sinaii, Ninet; Mallappa, Ashwini; Veeraraghavan, Padmasree; Merke, Deborah P.

doi:10.1210/jc.2018-00208

Cited by 56 publications

(82 citation statements)

References 35 publications

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“…This could also explain the correlation between fludrocortisone dose and stress-dose illness, with patients on higher daily fludrocortisone doses likely to have more severe salt-wasting during illness than patients on lower fludrocortisone doses. Our finding supports prior reports of fludrocortisone dose as a predictive marker for stress-dose requirement (8) and as a risk factor for hospitalizations in CAH (10).…”

Section: Discussionsupporting

confidence: 92%

“…Newborns diagnosed with salt-wasting CAH require rapid replacement of cortisol, aldosterone, and salt to avoid catastrophic dehydration (6). In addition, newborns and infants with CAH exhibit epinephrine deficiency (2), adding risk for illness, adrenal crisis, and Emergency Department (ED) visits (8) at an age that inherently has an increased frequency of ED visits (9).…”

Section: Introductionmentioning

confidence: 99%

“…Age has been noted to be an important factor in the longitudinal study of illness in CAH patients, with more illness events and stress-dosing noted to occur during childhood, and young age acting as a robust predictor of stress-dosing during this period of life (8). However, more needs to be understood about acute illness events and their pre-hospital treatment in infants and toddlers with classical CAH.…”

Section: Introductionmentioning

confidence: 99%

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Increased Frequency of Acute Illness and Hospitalizations in Infants and Toddlers with Congenital Adrenal Hyperplasia

Tseng

Seagroves

Koppin

et al. 2019

Preprint

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Purpose: Infants and toddlers with classical congenital adrenal hyperplasia (CAH) are at high risk for adrenal crisis and associated sequelae. To better understand acute illness at this early age, we determined the frequency and severity of acute illness and hospitalizations between 0-4 years of age, both within CAH and compared to controls. We also evaluated the impact of pre-hospital stress-dose hydrocortisone on Emergency Department (ED) visits and hospitalizations. Methods: We performed a retrospective study of 40 CAH youth and 27 age-matched controls at a tertiary center. Characteristics of acute illnesses during the first 4 years of life were recorded, including fever, vomiting, diarrhea, ED visits, hospitalizations, abnormal electrolytes, and stress-dose hydrocortisone usage. Results: CAH youth had more frequent illnesses requiring stress-dosing when they were younger than 2 years old [4.0 (1.0-6.0)] compared to when they were 2-4 years old [3.0 (1.0-4.0), P < 0.05], with the most illnesses during their first year of life. As well, CAH infants and toddlers had more hospitalizations younger than 2 years old compared to 2-4 years old (36 vs 2). 25% (3/12) of CAH youth with abnormal electrolytes in the ED did not receive any stress-dosing (oral/IM) prior to the ED, and only 25% (3/12) had received intramuscular hydrocortisone at home. CAH youth had more frequent ED visits (7.4 times as many) and hospitalizations (38 to 0) compared to controls. Conclusions: Very young children with classical CAH are at high risk for acute illness and hospitalizations during their first 2 years of life, and do not receive adequate stress-dosing prior to the ED despite appropriate education. Our findings underscore the need for earlier recognition of acute illness in this vulnerable population and improved education regarding administration of stress-dose hydrocortisone to prevent morbidity.

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Section: Discussionsupporting

confidence: 92%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Increased Frequency of Acute Illness and Hospitalizations in Infants and Toddlers with Congenital Adrenal Hyperplasia

Tseng

Seagroves

Koppin

et al. 2019

Preprint

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“…As most of these illnesses were viral respiratory tract infections, this is consistent with recommended practice. 3,15,16,19,27 While the estimates of stress dosing cannot be used to infer the appropriateness of the decision in each circumstance in this study, the lower than expected use of IM hydrocortisone in the presence of vomiting suggests that there may be opportunities for improvement in prehospital management of ill children with CAH.…”

Section: Discussionmentioning

confidence: 93%

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

Chrisp

Maguire

Quartararo

et al. 2018

Clinical Endocrinology

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“…administration during stress. It is essential that patients and their families are educated regarding treatment and stress dosing (75,76,77,78,79).…”

Section: Treatmentmentioning

confidence: 99%

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

115

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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Longitudinal Assessment of Illnesses, Stress Dosing, and Illness Sequelae in Patients With Congenital Adrenal Hyperplasia

Abstract: Repeated stress-related glucocorticoid dosing teaching is essential, but revised age-appropriate guidelines for the management of infectious illnesses are needed for patients with adrenal insufficiency that aim to reduce adrenal crises and prevent hypoglycemia, particularly in children.

Cited by 56 publications

References 35 publications

Increased Frequency of Acute Illness and Hospitalizations in Infants and Toddlers with Congenital Adrenal Hyperplasia

Increased Frequency of Acute Illness and Hospitalizations in Infants and Toddlers with Congenital Adrenal Hyperplasia

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

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

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