Addison’s Disease in a Girl with Family History

Background: Primary adrenal insufficiency is a rare condition especially in pediatrics’ population and can be fatal if not identified and treated on time. The usual presentation includes constitutional and gastrointestinal symptoms, cutaneous hyperpigmentation and hyponatremia. The treatment consists in hormonal replacement throughout life.

Clinical case: We present the case of a 16 years old female, admitted at the emergency department with asthenia, weight loss and daily vomiting with a month evolution. In admission, she presented cutaneous hyperpigmentation, without dehydration signs. Laboratory results showed hyponatremia with hyperkalemia and hypochloremia, decreased cortisol levels with increased levels of corticotropin and increased levels of renin with decreased aldosterone levels. She started treatment with hydrocortisone and fludrocortisone with favorable response. Additional investigation evidenced a positive family history for autoimmune primary adrenal insufficiency in a sibling.

Discussion: This case is illustrative of an uncommon disease, whose diagnosis requires a high degree of suspicion. The presence of cutaneous hyperpigmentation in a patient with constitutional symptoms and vomiting was the key to the diagnosis, as well as the presence of hyponatremia with hyperkalemia. The family history, although uncommon in this disease, was also a clue to the diagnosis.