A Case of Congenital Lipoid Adrenal Hyperplasia

Lipoid congenital adrenal hyperplasia (lipoid cah), a rare disorderof steroid biosynthesis, is the most severe form of cah. in thisdisorder the synthesis of glucocorticoids, mineralocorticoids andsex steroids is impaired which result in adrenal failure, severesalt wasting crisis and hyperpigmentation in phenotypical femaleinfants irrespective of genetic sex. in this report, we presented a28?day?old phenotypic female infant, which referred with lethargy,failure to thrive and electrolyte abnormalities. considering theclinical and biochemical findings, lipoid cah was diagnosedand replacement therapy with standard doses of glucocorticoidand mineralocorticoid and sodium chloride was initiated. duringfollow?up, she had good clinical condition, but at 6 years of age,she refers with hypertension and adrenal insufficiency becauseof arbitrary drug discontinuation by mother. in ultrasonographyan abdominal mass (the testicles) was reported. chromosomestudy showed 46xy pattern. orchiectomy was performed. werecommended that in cases with clinical presentation of adrenalinsufficiency if there is not the facility to determine the karyotype,repeated ultrasonography perform during follow?up. in addition,investigating the genetic bases of the disorder would help us todetermine the pathogenesis of lipoid cah in our community.it would be helpful in prenatal diagnosis and treatment of thedisorder to prevent its related comorbidities.