Adrenal insufficiency in childhood: two cases of a rare condition

CASE REPORTS

Adrenal insufficiency in childhood: two cases of a rare condition

Mafalda Moreira¹, Bebiana Sousa², Sandra Teixeira¹, Sara Soares², Leonilde Machado¹, Carla Brandão¹.

¹Department of Pediatrics, Centro Hospitalar do Tâmega e Sousa, Penafiel,
²Department of Pediatrics, Centro Materno Infantil do Norte Albino Aroso, Centro Hospitalar Universitário do Porto, Porto.

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Abstract
Adrenal insufficiency is a rare condition in children, usually presenting as general and gastrointestinal symptoms and skin hyperpigmentation. Symptoms can appear gradually or suddenly as in Addisonian crisis, a life-threatening condition, with hemodynamic and electrolyte disturbances. Autoimmune Polyglandular Syndromes are rarer conditions characterized by two or more autoimmune endocrinopathies. We aimed to evidence the different presentations of adrenal insufficiency and draw attention for its severity
Two adolescents were referred to pediatric emergency department with asthenia, anorexia, abdominal pain and vomiting. The first patient was hemodynamically unstable, discolored, dehydrated mucous membranes and cutaneous hyperpigmentation. Analytically showed hyponatremia, hyperkalemia, hypochloremia, hypoglycemia and mild metabolic acidosis. Fluid resuscitation and intravenous glucocorticoids were started, with favorable evolution. The second one presented reasonable general condition, sunken eyes, cutaneous hyperpigmentation, maintaining hemodynamic stability. Analytically showed hyponatremia, hyperkaliemia, hypochloremia, hypoglycemia, decreased cortisol and aldosterone and increased corticotropin and renin, along with adrenal antibodies. Investigation showed increased TSH and normal free T4 and anti-peroxidase antibodies. The association of Addison's disease with Hashimoto's Thyroiditis allowed the diagnosis of Autoimmune Polyglandular Syndrome.
These cases highlight the rarity of Addison's disease in pediatric age, whose diagnosis shouldn’t be delayed as it can be fatal. Clinical suspicion of this uncommon pathology is essential. Despite the same diagnosis, there were different presentations, including an equally rare Polyglandular Syndrome.

Why this article important?

Although Addison’s disease is uncommon in pediatric age, two different cases were diagnosed in a short time in our emergency department. The first patient was hemodynamically unstable and presented discolored, dehydrated mucous membranes and cutaneous hyperpigmentation. Analytically presented hyponatremia, hyperkalemia, hypochloremia, hypoglycemia and mild metabolic acidosis. As she presented hemodynamic disturbances and electrolyte abnormalities the diagnosis of Addisionian crisis was done and fluid resuscitation and intravenous glucocorticoids were promptly started. The second patient presented reasonable general condition, sunken eyes, cutaneous hyperpigmentation, but maintained hemodynamic stability. Analytically showed hyponatremia, hyperkaliemia, hypochloremia, hypoglycemia, decreased cortisol and aldosterone and increased corticotropin and renin, along with adrenal antibodies. Investigation showed increased TSH and normal free T4 and anti-peroxidase antibodies. The association of Addison's disease with Hashimoto's Thyroiditis allowed the diagnosis of Autoimmune Polyglandular Syndrome (APS). APS type II is extremely rare in childhood and this reported patient met the diagnostic criteria at 10 years of age. The absence of family history, as in our case, shouldn’t exclude the diagnostic hypothesis of this syndrome.

Summary of article

The diagnosis of adrenal insufficiency requires a high degree of suspicion, given the nonspecific symptomatology as asthenia, anorexia, weight loss, myalgias, abdominal pain and vomiting, and the consequences of late diagnosis. Addisonian crisis is a life-threatening condition, usually presenting with hemodynamic disturbances (hypotension and/or tachycardia) and electrolyte abnormalities (hyponatremia, hyperkalemia or hypoglycemia). It requires prompt diagnosis and proper treatment, as intravenous glucocorticoids. Autoimmune polyglandular syndrome is an uncommon pathology whose diagnosis consists of the association of more than two autoimmune endocrinopathies. As there is usually a substantial interval between different manifestations, clinical and laboratory surveillance of other immune pathologies is recommended at the time of the diagnosis of adrenal insufficiency.

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