Central diabetes insipidus in a patient with NFKB2 mutation: Expanding the endocrine phenotype in DAVID syndrome

• Published in: The journal of clinical endocrinology and metabolism Vol. 104; no. 9; pp. 4051 - 4057
• Main Authors: Nasomyont, Nat, Lindsley, Andrew W, Assa’ad, Amal, Dawson, D Brian, Neilson, Derek E, Brady, Cassandra C, Rutter, Meilan M
• Format: Journal Article
• Language: English
• Published: United States Copyright Oxford University Press 01.09.2019; Oxford University Press
• Subjects: Adrenal glands; Age; Alopecia; Common variable immunodeficiency; Diabetes; Diabetes insipidus; Growth hormone; Hypogammaglobulinemia; Hypopituitarism; Mutation; Pediatrics; Phenotypes; Pituitary (anterior); Pituitary (posterior); Pituitary hormones
• ISSN: 0021-972X; 1945-7197
• DOI: 10.1210/jc.2019-00469

Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome is a recently described, rare disorder characterized by anterior pituitary hormone deficiencies and common variable immunodeficiency associated with NFKB2 mutations. Posterior pituitary hormone deficiencies have not been reported in patients with DAVID syndrome. We report a pediatric patient who initially presented with hypogammaglobulinemia and alopecia totalis, who was identified to have a de novo NFKB2 mutation at one year of age. He developed central diabetes insipidus and central adrenal insufficiency at three and four years of age, respectively. At seven years of age, he had not developed GH or TSH deficiencies. Whole exome sequencing ruled out known genetic causes of central diabetes insipidus, adrenal insufficiency, and hypopituitarism. This is a report of central diabetes insipidus in a patient with DAVID syndrome caused by an NFKB2 mutation. This case report expands the evolving endocrine phenotype associated with NFKB2 mutations beyond anterior pituitary deficiencies.