Growth and metabolic control during puberty in girls with X-linked hypophosphataemic rickets.
OBJECTIVE
X-linked hypophosphataemic rickets (XLH) results in defective bone mineralization and impaired growth. Treatment with oral phosphate (Pi) and calcitriol improves but does not normalize growth. This study assessed whether pubertal growth and metabolic control contribute to the height deficit.


METHODS
Study included patients with XLH who were treated with Pi-calcitriol from diagnosis to adult height; their hospital records, biochemistry and radiographs were reviewed.


RESULTS
Six females with XLH were included. Their mean peak height velocity and total height gain during puberty were nearly normal despite deteriorating metabolic control.


CONCLUSIONS
In treated girls with XLH, the pubertal growth is nearly normal despite suboptimal metabolic control. The major height loss occurs prior to puberty and is not recovered during the pubertal growth spurt.
Sochett
Etienne
E
Division of Endocrinology, Hospital for Sick Children, University of Toronto, Toronto, Ont, Canada.
Doria
Andrea S
AS
Henriques
Flavia
F
Kooh
Sang Whay
SW
Daneman
Alan
A
Mäkitie
Outi
O
D001827:Body Height; D002648:Child; D002675:Child, Preschool; D005260:Female; D006128:Growth; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000000981:diagnostic imaging / Q000378:metabolism / Q000503:physiopathology*; D007223:Infant; D011627:Puberty; D011859:Radiography; D012720:Severity of Illness Index