Congenital hypopituitarism due to POU1F1 gene mutation
Journal
Journal of the Formosan Medical Association
Journal Volume
110
Journal Issue
1
Pages
58-61
Date Issued
2011
Author(s)
Abstract
POU1F1 (Pit-1; Gene ID 5449) is an anterior pituitary transcriptional factor, and POU1F1 mutation is known to cause anterior pituitary hypoplasia, growth hormone and prolactin deficiency, and various degree of hypothyroidism. We report here a patient who presented with growth failure and central hypothyroidism since early infancy. However, treatment with thyroxine gave no effect and he subsequently developed calf muscle pseudohypertrophy (Kocher-Debre-Semelaigne syndrome), elevation of creatinine kinase, dilated cardiomyopathy, and pericardial effusion. Final diagnosis was made by combined pituitary function test and sequencing analysis that revealed POU1F1 gene c.698T >C (p.F233S) mutation. The rarity of the disease can result in delayed diagnosis and treatment. ? 2011 Elsevier & Formosan Medical Association.
SDGs
Other Subjects
creatine kinase; insulin; thyroxine; transcription factor Pit 1; article; case report; child; creatinine clearance; failure to thrive; female; forehead; gastrocnemius muscle; gene mutation; heart murmur; human; hypopituitarism; muscle hypertrophy; muscle hypotonia; normochromic normocytic anemia; pregnancy; scanty hair; Taiwan; thorax radiography; urinalysis
Type
journal article