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

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 r...

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Bibliographic Details
Published in:The journal of clinical endocrinology and metabolism 2019-09, Vol.104 (9), p.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: Article
Language:English
Subjects:
Adrenal glands
Age
Alopecia
Common variable immunodeficiency
Diabetes
Diabetes insipidus
Growth hormones
Hypogammaglobulinemia
Hypopituitarism
Mutation
Pediatrics
Phenotypes
Pituitary (anterior)
Pituitary (posterior)
Pituitary hormones
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Description
Summary: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.
ISSN:0021-972X
1945-7197
DOI:10.1210/jc.2019-00469