Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome is a rare condition characterized by symptomatic
ACTH deficiency and primary
hypogammaglobulinemia, caused by pathogenic variants of the
nuclear factor kappa-B subunit 2 (NF-κB2) gene. We report the case of a 9-yr-old boy diagnosed with
common variable immunodeficiency at the age of 3, who is under monthly
intravenous immunoglobulin. The patient was admitted twice to the pediatric emergency service at the age of 9 due to symptomatic
hypoglycemic events. During the
hypoglycemic crisis, serum
cortisol was low (< 0.1 μg/dL),
ACTH level was inappropriately low (4.4 ng/L) and the
ACTH stimulation test failed to raise the blood
cortisol level. Pituitary magnetic resonance imaging showed a hypoplastic pituitary. Other pituitary deficiencies, primary
hyperinsulinism and other
metabolic diseases were excluded. He started
hydrocortisone replacement treatment while maintaining
immunoglobulin substitution and he remains asymptomatic. Molecular analysis revealed the heterozygous nonsense pathogenic variant, c.2557C>T (Arg853Ter) in the NF-κB2 gene. Thus, symptomatic
hypoglycemia in a child with primary immunodeficiency should raise the suspicion of DAVID syndrome, prompting NF-κB2 molecular analysis, to allow timely and appropriated
therapy and genetic counseling.