Concurrent pancreatic and growth hormone insufficiency in Johanson-Blizzard syndrome

Exocrine pancreatic insufficiency is one of the recognised features of the Johanson-Blizzard syndrome; other features include hypothyroidism, sensorineural deafness, aplastic alae nasi, developmental delay, and growth retardation. Twenty-one cases of the syndrome have been described to date. The child reported here was diagnosed in the neonatal period, but despite early pancreatic and thyroid replacement therapy his growth remained poor. Anterior pituitary function studies demonstrated growth hormone deficiency, subsequent administration of growth hormone has resulted in an improvement in his growth velocity. This feature has not been well documented and should be considered as a factor contributing to the growth retardation which is a constant feature of this syndrome.