GH and TSH deficiency.
Hypothyroidism is a recognised complication of GH therapy in GH deficient children. The mechanisms involved include direct effects on thyroid function but also result from the close interrelationship of pituitary cell-lines that differentiate during embryonic development of the anterior pituitary gland. Among numerous pituitary transcriptionfactors that orchestrate pituitary organogenesis Pit-1 was the first to be recognised and is the most extensively studied. Mutations in the Pit-1 gene account for a form of combined pituitary hormone deficiency for GH, Prolactin (Prl) and TSH (CPHD). Despite the variability of the clinical presentation of this syndrome at the time of initial diagnosis, all forms finally result in severe retardation of growth and development due to GH-deficiency and hypothyroidism. More than half of the families with a combined pituitary hormone deficiency have not disclosed any Pit-1 abnormalities. Evidence is accumulating that Prop-1, a transcriptionfactor expressed temporarily in the fetal anterior pituitary, could be a candidate for patients with a Pit-1 phenotype without any Pit-1 gene abnormalities.
Pfäffle
R W
RW
Dept. of Pediatrics RWTH Aachen, Germany. pfaeffle@alpha.imib.rwth-aachen.de
Martinez
R
R
Kim
C
C
Frisch
H
H
Lebl
J
J
Otten
B
B
Heimann
G
G
D004268:DNA-Binding Proteins / Q000235:genetics*; D019382:Human Growth Hormone / Q000172:deficiency* / Q000627:therapeutic use; D006801:Humans; D007018:Hypopituitarism / Q000235:genetics; D007037:Hypothyroidism / Q000235:genetics; D009154:Mutation; D011388:Prolactin / Q000172:deficiency; D013972:Thyrotropin / Q000172:deficiency*; D013974:Thyroxine / Q000627:therapeutic use; D050817:Transcription Factor Pit-1; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; C494187:POU1F1 protein, human; D050817:Transcription Factor Pit-1; D014157:Transcription Factors; D019382:Human Growth Hormone; D011388:Prolactin; D013972:Thyrotropin; D013974:Thyroxine