Abstract
We present the case of a child with mild axial hypotonia and episodes of persistent hyponatremia and hyperkalemia early in life, followed by an asymptomatic long period. During the present hospital admission, dysregulation of the adrenal gland function and detection of two missense variants in NR0B1 (nuclear receptor subfamily 0 group B member 1) gene state with high probability the diagnosis of congenital adrenal insufficiency. Management include substitution therapy and food supplementation with salt with good outcome.
Highlights
Background and AimsPrimary adrenal insufficiency is a rare disease with a prevalence of 1 to 5 per 10.000 in adults from western countries where autoimmune adrenalitis is the most common cause [1]
We present the case of a child with mild axial hypotonia and episodes of persistent hyponatremia and hyperkalemia early in life, followed by an asymptomatic long period
We present the case of a child diagnosed with primary adrenal insufficiency with a history of nonspecific symptoms followed by a long asymptomatic period before hospital admission
Summary
Primary adrenal insufficiency is a rare disease with a prevalence of 1 to 5 per 10.000 in adults from western countries where autoimmune adrenalitis is the most common cause [1]. Diagnostic delay until the third or fourth decade of life might be due to the nonspecific onset symptoms. Adrenal insufficiency has both genetic and acquired causes: congenital adrenal hyperplasia, autoimmunity and steroid withdrawal after chronic exposure [2,3]. Important challenges in treatment are the risk of over- and under-replacement dosing and early recognition of association with autoimmune polyendocrine syndrome (APS) [2,3]. We present the case of a child diagnosed with primary adrenal insufficiency with a history of nonspecific symptoms followed by a long asymptomatic period before hospital admission
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