Pre-pubertal gynaecomastia as the presenting feature of late-onset 21-hydroxylase deficiency.
We describe an 8-year-old boy with pre-pubertal gynaecomastia as the presenting feature of late-onset 21-hydroxylase deficiency, an association not previously reported. Although absolute oestrogen levels were not higher than previously described in 21-hydroxylase deficiency, the gynaecomastia may have arisen through a relative disproportion of the C18 to C19 steroids.
Auchterlonie
I A
IA
Cameron
J
J
Wallace
A M
AM
Rudd
B T
BT
Hudson
M
M
Smail
P J
PJ
D000324:Adrenocorticotropic Hormone; D000365:Age Determination by Skeleton; D001940:Breast / Q000254:growth & development*; D002648:Child; D002658:Developmental Disabilities / Q000188:drug therapy / Q000209:etiology* / Q000378:metabolism; D005500:Follow-Up Studies; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D008297:Male; D006899:Mixed Function Oxygenases / Q000172:deficiency*; D010906:Pituitary Hormone-Releasing Hormones; D011627:Puberty
D010906:Pituitary Hormone-Releasing Hormones; D000324:Adrenocorticotropic Hormone; D006899:Mixed Function Oxygenases; D006854:Hydrocortisone