[From gene to disease; POU1F1- and PROP1-mutations in pituitary hormone deficiency].
Multiple pituitary hormone deficiency can be caused by mutations in at least three pituitary transcription factors: POU1F1 (formerly called PIT1), PROP1 or HESX1. The role of the various pituitary transcription factors in pituitary ontogeny has been elucidated in part for the mouse. In humans, mutations in POU1F1 result in a total deficiency of growth hormone and prolactin, and a variable deficiency of TSH. Cases of mutations in PROP1 exhibit the same deficiencies, with additional deficiencies of gonadotrophins and a variable deficiency of ACTH. In the Netherlands, cases of multiple pituitary hormone deficiency are not only detected on the basis of the classical signs and symptoms of pituitary deficiency, but also by means of screening on congenital hypothyroidism with an incidence of approximately 1:20,000.
Wit
J M
JM
Leids Universitair Medisch Centrum, afd. Kindergeneeskunde, Leiden.
Vulsma
T
T
de Vijlder
J J
JJ
D000818:Animals; D003409:Congenital Hypothyroidism / Q000517:prevention & control; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D051379:Mice; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods; D009426:Netherlands / Q000453:epidemiology; D010900:Pituitary Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D010907:Pituitary Hormones / Q000172:deficiency* / Q000235:genetics*; D013954:Thyroglobulin / Q000097:blood; D013972:Thyrotropin / Q000097:blood; D014157:Transcription Factors / Q000235:genetics*
D018398:Homeodomain Proteins; D010907:Pituitary Hormones; C102134:Prophet of Pit-1 protein; D014157:Transcription Factors; D013972:Thyrotropin; D013954:Thyroglobulin
Van gen naar ziekte; POU1F1- en PROP1-mutaties bij deficiëntie van hypofysevoorkwabhormonen.