Long-term growth hormone therapy in mitochondrial cytopathy.
OBJECTIVE
To describe in a 5-year-old Caucasian male with mitochondrial cytopathy, a biochemical growth hormone (GH) deficiency associated with normal GH biological activity as evaluated by Nb2 cell bioassay and normal serum IGF-I and IGFBP3 values increasing slightly after GH administration.


METHODS
Serum GH concentrations were measured with a commercial immunofluorometric assay and with a biological assay, which uses the Nb2 cell line. Serum IGF-I and IGFBP3 concentrations were measured with RIA.


RESULTS
The GH-supplementary therapy was initially effective in terms of growth gain, but no therapeutic benefit was observed over a long period of time.


CONCLUSIONS
In patients suffering from mitochondrial cytopathy, short stature seems to be attributed more to a disease-related inadequate protein substrate than to the non-classical GH deficiency.
Barberi
Salvatore
S
Department of Pediatrics, University of Pavia, IRCCS San Matteo, Pavia, Italy. salvatorebarberi@hotmail.com
Bozzola
Elena
E
Berardinelli
Angela
A
Meazza
Cristina
C
Bozzola
Mauro
M
D002675:Child, Preschool; D006130:Growth Disorders / Q000188:drug therapy* / Q000473:pathology; D020249:Hormone Replacement Therapy; D019382:Human Growth Hormone / Q000008:administration & dosage / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000188:drug therapy* / Q000473:pathology
D019382:Human Growth Hormone