Normal newborn 17-hydroxyprogesterone level in an infant with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

Abstract

Introduction: Neonatal screening with filter paper 17-hydroxyprogesterone (17-OHP) levels has improved detection of infants with adrenal 21-hydroxylase deficiency. The occurrence of false-negative 17-OHP screening results for classical 21-hydroxylase deficiency is extremely rare. Results: We report a case of a 7-week-old male infant whose clinical presentation was suggestive of 21-hydroxylase deficiency. Because his neonatal 17-OHP screening levels were normal, additional hormone levels were measured. Elevated deoxycortisol and deoxycorticosterone levels led to the diagnosis of 11β-hydroxylase deficiency. Discussion: When confronted with adrenal insufficiency in a neonate in whom 17-OHP neonatal screening results are normal, other causes of adrenal insufficiency should be considered.