Neonatal cholestasis in congenital pituitary hormone deficiency and isolated hypocortisolism: characterization of liver dysfunction and follow-up

Introduction: Neonatal cholestasis due to endocrine diseases is infrequent and poorly recognized. Referral to the pediatric endocrinologist is delayed. Objective: We characterized cholestasis in infants with congenital pituitary hormone deficiencies (CPHD), and its resolution after hormone replacement therapy (HRT). Subjects and methods: Sixteen patients (12 males) were included; eleven with CPHD, and five with isolated central hypocortisolism. Results: Onset of cholestasis occurred at a median age of 18 days of life (range 2-120). Ten and nine patients had elevated transaminases and gamma GT, respectively. Referral to the endocrinologist occurred at 32 days (range 1 - 72). Remission of cholestasis occurred at a median age of 65 days, whereas liver enzymes occurred at 90 days. In our cohort isolated, hypocortisolism was a transient disorder. Conclusion: Cholestasis due to hormonal deficiencies completely resolved upon introduction of HRT. Isolated hypocortisolism may be a transient cause of cholestasis that needs to be re-evaluated after remission of cholestasis. Arq Bras Endocrinol Metab. 2011;55(8):622-7