Adrenal Insufficiency during Childhood and Adolescence

Introduction: Adrenal insufficiency is a rare pathology in children .It is a well-known cause of potentially life-threatening disorders. Defects at each level of the hypothalamic-pituitary-adrenal axis can impair adrenal function, leading to varying degrees of glucocorticoid (GC) and mineralocorticoid (MC) deficiency. Clinical signs in children are usually nonspecific with an insidious installation which can delay the diagnosis. Timely diagnosis and clinical management of adrenal insufficiency are critical to prevent morbidity and mortality.

Methods: We reviewed the frequency and variety of presentation of adrenal insufficiency to the University Hospital of Sahloul over a period of 18 years and 7 months ( june 2000-febrery 2019) through patients hospitalized , collating demographic information, presentation and investigations.

Results: Thirty three cases (12 male, 21 female) of adrenal insufficiency were diagnosed at this hospital during 18 years and 7 months. Median age at presentation was 8.2 years (range: 3 months to 15 years). Consanguinity was found in 8 cases. Pathological familial antecedents were noted in 34,2%. Symptoms at presentation included weakness, abdominal pain, nausea, infections, developmental delay. At the clinical examination we noticed growth abnormalities (21,4%), dehydration (44,8%) increased pigmentation and sexual ambiguity.A primary adrenal insufficiency was identified in 21 cases with 14 cases due to impaired adrenal steroidogenesis (congenital adrenal hyperplasia) and The most common enzyme deficiency were 21-hydroxylase. Secondary Adrenal Insufficiency was found in 10 cases with 9 cases of craniopharyngioma. All patients were put on hormone replacement therapy. We noticed good compliance in 80%. We had 2 deaths due to a severe dehydration.

Conclusions: Adrenal insufficiency is a well-defined entity with a clinical spectrum that ranges from sub-clinical biochemical abnormalities to full-blown adrenal crisis. The diagnosis and treatment of adrenal insufficiency in childhood and adolescence poses a number of challenges. Treatment should be started immediately without waiting for confirmation from biochemical tests.