Isolated deficiency of glucocorticoids presenting with cholestasis

Background: Isolated deficiency of glucocorticoids is characterized by elevated levels of adrenocorticotropin (ACTH) and normal aldosterone production. It is rare for isolated deficiency of glucocorticoids to be associated with liver involvement. A case of an infant with isolated deficiency of glucocorticoids presenting with cholestasis is presented in this article. A male infant on his 39th postnatal day was referred to our hospital for evaluation of prolonged jaundice and convulsion. He had two episodes of hypoglycemic convulsion on postnatal 8th and 39th day, after which he was admitted to our hospital. Results: Physical examination revealed systemic jaundice, hyperpigmentation of the skin, hepatomegaly and splenomegaly on admission. He had normal male genitalia with 3.5 cm of penis and bilateral scrotal testes. Laboratory values were as follows: glucose 45 mg/dL, total biluribin 18.14 mg/dL, direct biluribin 6.54 mg/dL, aspartate aminotransferase 378 IU/L, alanine aminotransferase 46 IU/L, and alkaline phosphatase (ALP) 1302 IU/L. In abdominal ultrasound and biliary tract scanning, extra- and intrahepatic biliary tracts were shown to be normal. Finally, biopsy of the liver revealed cholestasis. An endocrinological evaluation showed high levels of adrenocorticotropin (ACTH, 1000 pg/mL), low levels of cortisol (1 mu g/dL) and normal aldosterone levels. Conclusions: The diagnosis of cholestasis secondary to isolated glucocorticoid deficiency was suspected with clinical and laboratory findings. Hydrocortisone treatment (30 mg/m(2) per day) was initiated after which hyperpigmentation and jaundice decreased and ACTH and ALP levels reduced to 39 pg/mL and 440 IU/l, respectively. We emphasize that cholestasis in infants may be a component of isolated deficiency of glucocorticoids.