Endocrine Abstracts

Introduction: Adrenal insufficiency is a life-threatening disease caused by primary adrenal failure or secondary adrenal failure due to an impairment of hypothalamic-pituitary axis that affects adrenal cortisol synthesis. It is characterized by deficient production of glucocorticoids and may be associated with mineralocorticoid and androgens deficiency. Prompt diagnosis and management are essential and may even be life-saving.

Methods: We retrospectively collected and analysed clinical, laboratorial and radiological data from patients with adrenal insufficiency observed over a period of 34 years (January 1984–December 2017) in a Pediatric Endocrinology Department of a Tertiary Care Hospital.

Results: Seventy patients with adrenal insufficiency were identified:41 with primary adrenal insufficiency and 29 with central adrenal insufficiency. Primary adrenal insufficiency patients were mainly males (56%), with a mean age at diagnosis of 2±4 years, followed for about 11±6 years. Thirty-five patients (85%) had classic adrenal congenital hyperplasia, mainly due to 21-hydroxilase deficiency (n=33), 3 patients had Addison disease, 1 had X-linked adrenoleukodystrophy, 1 had Pearson disease and 1 had bilateral adrenal haemorrhage. At the presentation, 73% of the patients had hyponatremia and more than half had mucocutaneous hyperpigmentation, asthenia, anorexia, weight loss, nauseas and vomiting; 46% presented with genital ambiguity.Mean ACTH level at diagnosis was 631±449 pg/mL (reference range<46.0) and mean cortisol level was 7±5 μg/dL (reference range 5.0-25.0). All the patients were treated with hydrocortisone (mean dose 9±5 mg/day) and 90% were also on fludrocortisone (mean dose 60±20 μg/day). During the follow-up, one patient died for unknown causes. Regarding patients with central adrenal insufficiency, the majority were females (52%), with a mean age at diagnosis of 6±5 years, followed for 9±6years. Craniopharyngeoma was present in 31% of the patients,pituitary hypoplasia in 24% and 10% had a hypothalamic tumour. Besides corticotropin, the most common hormone insufficiencies were thyrotropin (93%), growth hormone (63%) and antidiuretic hormone (52%) deficiencies. The most frequent presenting clinical features were hypoglycemia (35%), nausea and vomiting (28%) and infectious diseases (28%) .93% of the patients were treated with hydrocortisone (mean dose 9±8 mg/day). During the follow-up, 2 patients died due to cardiorespiratory complications.

Conclusions: Despite medical advances, the diagnosis and management of adrenal insufficiency remains a challenge, particularly in the paediatric population owing to their special characteristics. Raising awareness and knowledge in medical teams and population about adrenal insufficiency is of crucial importance to improve clinical outcomes and to reduce disease morbidity and mortality.