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Pan Afr Med J ; 30: 244, 2018.
Article in French | MEDLINE | ID: mdl-30627305

ABSTRACT

Adrenocorticotropic hormone (ACTH) insensitivity syndrome is one of the rare causes of adrenal insufficiency in children. All described inherited ACTH insensitivity forms are of autosomal recessive origin. In our resource-poor Countries, many of these rare diseases are ignored or not diagnosed due to inadequate technical equipments. We report the case of a 4-month old infant hospitalized for refractory hypoglycaemias. Despite the patient had generalized and severe melanodermia, digestive disorders and ion channel disorders the diagnosis of cortisol deficiency was only diagnosed retrospectively during respiratory arrest with favorable outcome under hydrocortisone therapy. This study aims to highlight the clinical, laboratory and therapeutic features of peripheral cortisol deficiency, without enzymatic blocks, including this adrenocorticotropic hormone (ACTH) insensitivity syndrome.


Subject(s)
Adrenal Insufficiency/diagnosis , Adrenocorticotropic Hormone/metabolism , Hydrocortisone/administration & dosage , Female , Humans , Infant , Respiratory Insufficiency/physiopathology , Syndrome
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