Total deficiency of growth hormone and prolactin, and partial deficiency of thyroid stimulating hormone in two Dutch families: a new variant of hereditary pituitary deficiency.
Four out of 10 children in two unrelated families presented with a total pituitary growth hormone (GH) and prolactin deficiency and a partial thyrotropin (TSH) deficiency. The GH gene was intact in family I. The pituitaries, visualized by magnetic resonance imaging, were normal. All children responded well to GH and L-thyroxine therapy. Baseline plasma somatostatin and its peak response to arginine infusion were elevated in family I and they had a milder TSH deficiency than family II. Plasma insulin showed a poor response to arginine infusion. This hereditary combination of pituitary deficiencies suggests a deficiency of a common positive transcription factor.
Wit
J M
JM
Department of Pediatrics, University Hospital for Children and Youth, Utrecht, The Netherlands.
Drayer
N M
NM
Jansen
M
M
Walenkamp
M J
MJ
Hackeng
W H
WH
Thijssen
J H
JH
Van den Brande
J L
JL
D000328:Adult; D001120:Arginine; D002648:Child; D002675:Child, Preschool; D004393:Dwarfism, Pituitary / Q000188:drug therapy / Q000235:genetics; D005190:Family; D005260:Female; D013006:Growth Hormone / Q000097:blood / Q000172:deficiency* / Q000627:therapeutic use; D006801:Humans; D007018:Hypopituitarism / Q000097:blood / Q000235:genetics*; D007037:Hypothyroidism / Q000188:drug therapy / Q000235:genetics; D007223:Infant; D008297:Male; D011388:Prolactin / Q000097:blood / Q000172:deficiency*; D013972:Thyrotropin / Q000172:deficiency*; D013974:Thyroxine / Q000627:therapeutic use
D011388:Prolactin; D013972:Thyrotropin; D013006:Growth Hormone; D001120:Arginine; D013974:Thyroxine