Open AccessEffect of GH replacement therapy in two male siblings with combined X-linked hypophosphatemia and partial GH deficiency
Author(s) -
SM Schutt,
M. Schumacher,
PM Holterhus,
S Felgenhauer,
Olaf Hiort
Publication year - 2003
Publication title -
european journal of endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.897
H-Index - 148
eISSN - 1479-683X
pISSN - 0804-4643
DOI - 10.1530/eje.0.1490317
Subject(s) - phex , hypophosphatemia , endocrinology , medicine , hypophosphatemic rickets , calcitriol , rickets , short stature , nephrocalcinosis , exon , compound heterozygosity , biology , mutation , vitamin d and neurology , gene , genetics , kidney
X-linked hypophosphatemia (XLH) is characterized by low serum phosphorus, relative 1,25-dihydroxyvitamin D(3) deficiency and rickets. It is caused by mutations in the phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX). The conventional treatment of XLH includes the administration of phosphate and calcitriol; however, treated patients usually present with a short stature. Therefore, additional coexistent defects, such as GH deficiency, are under debate.
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