Adrenal Insufficiency and Stress Dosing in a Large Cohort with Congenital Adrenal Hyperplasia

Presentation Number: SUN 390
Date of Presentation: April 2nd, 2017

Diala El-Maouche*1, Courtney Hargreaves2, Ashwini Mallappa3 and Deborah P. Merke4
1National Institutes of Health, Baltimore, MD, 2National Institutes of Health, 3National Institutes of Health, Bethesda, MD, 4NIH, Bethesda, MD


Introduction: Patients with congenital adrenal hyperplasia (CAH) are at risk for adrenal crisis which may lead to increased hospitalization rate and excess mortality. As a preventative measure, education regarding stress dosing is routinely enforced at each visit for our patients. We sought to characterize the rates and causes of stress dosing in our large cohort of patients with CAH.

Methods: Retrospective longitudinal study of a cohort of CAH pediatric patients (followed every 6 months) and adults (followed annually) over 10 years at the National Institutes of Health (NIH) Clinical Center.

Results: The cohort consisted of 126 patients 60% male, 97.6% with 21-hydroxylase deficiency, and 2.4% with other rare types of CAH. Patients were followed for an average of 10 + 6 years, with age at first appointment ranging 11 months - 54 years (median 5.4 years). When stratified by age, the pediatric group had the highest rate of illness episodes and stress dosing in the 0-4 year old age group as compared to 4-18 year old age group (2.5 ± 3.0 vs. 1.5 ± 2.3 illness episodes/year, p< 0.0001; 5.0 + 10.2 vs. 2.2 + 3.8 stress dose days/year, p< 0.0001). Among adults, an increase in stress dosing and illness episodes was seen in patients age 55 or older (0.7 ± 1.7 vs. 1.9 ± 2.3 illness episodes/year, p=0.01; 0.7 + 1.9 vs. 2.6 + 3.5 stress dose days/year, p=0.006). For pediatric patients, females reported higher rates of illnesses and stress dosing than males (1.9 + 2.9 vs. 1.4+ 2 days/year, p<0.0001); this was not observed in adults. No differences were observed according to phenotype. The main factors requiring stress dosing in both adult and pediatric patients were gastro-intestinal, upper respiratory and febrile illnesses. Nine patients had documented episodes of hypoglycemic (age range: 1.1 to 5.2 years) and 2 had hypoglycemic seizures, usually, but not always precipitated by fever and decreased oral intake. For the pediatric group only, age was negatively correlated with rate of yearly hospitalizations and ER visits (p<.0001).


In this cohort of patients with CAH receiving repeated adrenal insufficiency education, stress dosing was mostly according to our teaching protocol, but hospitalizations and hypoglycemic events still occurred. Special attention should be given to the youngest and eldest age groups in this population, who may be more susceptible to illnesses. Female patients were more likely to have illnesses requiring stress dosing. Further preventative measures should be undertaken in an attempt to minimize morbidity and mortality in patients with adrenal insufficiency.


Disclosure: DPM: Principal Investigator, Diurnal, Principal Investigator, Millendo Therapeutics. Nothing to Disclose: DE, CH, AM