Severe congenital hypopituitarism with low prolactin levels and age-dependent anterior pituitary hypoplasia: a clue to a PIT-1 mutation.
A 20-month-old boy presented with severe congenital growth hormone, thyrotropin, and prolactin deficiencies resulting from a de novo mutation of the PIT-1 gene. This form of congenital hypopituitarism should be suspected if pituitary anatomy is normal, especially if prolactin levels are low and, in boys, if the external genitalia are normal. Pituitary atrophy appears to be an age-dependent phenomenon in this condition.
Ward
L
L
Département de Pédiatrie and Imagerie Médicale, Hôpital Sainte-Justine, Université de Montréal, Québec, Canada.
Chavez
M
M
Huot
C
C
Lecocq
P
P
Collu
R
R
Décarie
J C
JC
Martial
J A
JA
Van Vliet
G
G
D004268:DNA-Binding Proteins / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D019382:Human Growth Hormone / Q000172:deficiency; D006801:Humans; D007018:Hypopituitarism / Q000151:congenital* / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation; D010903:Pituitary Gland, Anterior / Q000002:abnormalities / Q000033:anatomy & histology*; D011388:Prolactin / Q000172:deficiency*; D013972:Thyrotropin / Q000172:deficiency; D050817:Transcription Factor Pit-1; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; C494187:POU1F1 protein, human; D050817:Transcription Factor Pit-1; D014157:Transcription Factors; D019382:Human Growth Hormone; D011388:Prolactin; D013972:Thyrotropin