SEVERE METABOLIC DISORDER – CAUSE OF DEATH AT A NEWBORN SUFFERING FROM CHRONIC CONDITION

Abstract

Congenital adrenal hyperplasia is an autosomal recessive disorder of adrenal steroid biosynthesis, children born from consanguinity relationships have the highest burden of disease. This is a case report of a 2-month male infant having salt loss deficiency and classic congenital adrenal hyperplasia, without evident signs of virilization. The diagnosis was made based on the medical history of the family, on the clinical and biological data. The outcome can be favorable as long as the glucocorticoid replacement therapy is complied with. Moreover, adrenal crisis and major metabolic imbalance increase the risk of death.

Keywords

• congenital adrenal hyperplasia
• glucocorticoid
• 21-hydroxilase
• adrenal crisis