title: Congenital hypopituitarism due to POU1F1 gene mutation.
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.
authors.affiliation: Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Ni-Chung
authors.initials: NC
authors.lastname: Lee
authors.forename: Wen-Yu
authors.initials: WY
authors.lastname: Tsai
authors.forename: Shinn-Forng
authors.initials: SF
authors.lastname: Peng
authors.forename: Yi-Ching
authors.initials: YC
authors.lastname: Tung
authors.forename: Yin-Hsiu
authors.initials: YH
authors.lastname: Chien
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
mesh_terms: D002675:Child, Preschool; D003409:Congenital Hypothyroidism / Q000473:pathology; D005260:Female; D019382:Human Growth Hormone / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D006984:Hypertrophy / Q000473:pathology; D007018:Hypopituitarism / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D007037:Hypothyroidism / Q000150:complications*; D008279:Magnetic Resonance Imaging; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000473:pathology; D009154:Mutation; D010641:Phenotype; D010903:Pituitary Gland, Anterior; D017421:Sequence Analysis; D050817:Transcription Factor Pit-1 / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics
chemical_list: C494187:POU1F1 protein, human; D050817:Transcription Factor Pit-1; D014157:Transcription Factors; D019382:Human Growth Hormone