Primary hypothyroidism: an unusual manifestation of Wolcott–Rallison syndrome

Wolcott–Rallison syndrome has been reported to be associated with early-onset diabetes, epiphyseal dysplasia, hepatic and renal dysfunction, mental retardation, severe growth retardation, neutropenia, exocrine pancreatic dysfunction, and central hypothyroidism. We report on primary hypothyroidism, which has not been previously described, of a patient with Wolcott–Rallison syndrome due to novel mutation (W521X), who showed improved growth after thyroid hormone treatment.