Abstract

Introduction: The current study introduces a case with adrenal insufficiency that was suspected to have congenital adrenal hypoplasia because of undescended testis and failure to thrive due to muscle involvement. Case Presentation: The patient was a 34-month-old boy who had loss of consciousness, hypotension, hypoglycemia, hyponatremia and hyperkalemia with severe failure to thrive, hyper pigmentation of mucosa, hypotonia and no hypospadias. He was resistant to serum therapy and responded to hydrocortisone. Laboratory study elucidated elevated levels of adrenocorticotropin (ACTH) and muscle enzymes, decreased serum cortisol levels. Discussion: Adrenal hypoplasia congenita is a differential diagnosis for adrenal insufficiency. Undescended testis, especially in absence of hypospadiasis, is a clue to diagnose and treat this lethal disease.

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